### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PGAP3) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "PGAP3" "post-GPI attachment to proteins 3" "17" "q21.2" "no" "NC_000017.10" "UD_132464486764" "" "http://www.LOVD.nl/PGAP3" "" "1" "23719" "93210" "611801" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/PGAP3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00081" "2018-12-31 00:36:02" "00006" "2025-11-13 13:04:16" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00016028" "PGAP3" "post-GPI attachment to proteins 3" "001" "NM_033419.3" "" "NP_219487.3" "" "" "" "-43" "2644" "963" "37844310" "37827375" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00541" "HPMRS1;GPIBD2" "hyperphosphatasia, with mental retardation syndrome, type 1 (HPMRS-1, glycosylphosphatidylinositol deficiency, type 2 (GPIBD-2))" "AR" "239300" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04060" "HPMRS4;GPIBD10" "hyperphosphatasia, with mental retardation syndrome, type 4 (HPMRS-4, glycosylphosphatidylinositol deficiency, type 10 (GPIBD-10))" "AR" "615716" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05402" "HPMRS6;GPIBD12" "hyperphosphatasia with mental retardation syndrome, type 6 (HPMRS-6, glycosylphosphatidylinositol deficiency, type 12 (GPIBD-12))" "AR" "616809" "" "autosomal recessive" "" "00006" "2018-03-09 09:00:33" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PGAP3" "04060" ## Individuals ## Do not remove or alter this header ## ## Count = 55 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00025462" "" "" "" "1" "" "00081" "{PMID: Howard 2014 : 24439110}" "Three siblings, 17,8 and 4y, with hyperphosphatasia with mental retardation 4." "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00025463" "" "" "" "1" "" "00081" "{PMID:Howard 2014:24439110}" "Index case." "F" "no" "United States" "" "0" "" "" "white" "" "00025464" "" "" "" "1" "" "00081" "{PMID:Howard 2014 : 24439110}" "Index case." "F" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00080958" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00155253" "" "" "" "1" "" "00081" "Knaus 2016:27120253" "" "F" "no" "" "" "0" "" "" "European American" "A-II-1" "00155254" "" "" "" "1" "" "00081" "{PMID:Knaus 2016:27120253}" "" "F" "no" "" "" "0" "" "" "German" "B-II-2" "00155255" "" "" "" "2" "" "00081" "{PMID:Knaus 2016:27120253}" "" "M" "no" "" "" "0" "" "" "French" "C-II-1" "00155256" "" "" "00155255" "1" "" "00081" "{PMID:Knaus 2016:27120253}" "" "F" "no" "" "" "0" "" "" "French" "C-II-2" "00155267" "" "" "" "1" "" "00081" "{PMID:Knaus 2016:27120253}" "" "F" "no" "" "" "0" "" "" "British" "D-II-2" "00155268" "" "" "" "2" "" "00081" "{PMID:Knaus 2016:27120253}" "" "F" "yes" "" "" "0" "" "" "Palestinian" "E-II-2" "00155269" "" "" "00155268" "1" "" "00081" "{PMID:Knaus 2016:27120253}" "" "F" "yes" "" "" "0" "" "" "Palestinian" "E-II-4" "00155270" "" "" "" "1" "" "00081" "{PMID:Knaus 2016:27120253}" "" "M" "no" "" "" "0" "" "" "Japanese" "F-II-3" "00155271" "" "" "" "1" "" "00081" "{PMID:Abdel-Hamid 2017:28390064}" "" "M" "yes" "Egypt" "" "0" "" "" "" "Patient_1" "00155272" "" "" "" "1" "" "00081" "{PMID:Abdel-Hamid 2017:28390064}" "" "F" "yes" "Egypt" "" "0" "" "" "" "Patient_2" "00155273" "" "" "" "1" "" "00081" "{PMID:Abdel-Hamid 2017:28390064}" "" "F" "yes" "Egypt" "" "0" "" "" "" "Patient_3" "00155274" "" "" "" "1" "" "00081" "{PMID:Abdel-Hamid 2017:28390064}" "" "M" "yes" "Egypt" "" "0" "" "" "" "Patient_4" "00155275" "" "" "" "1" "" "00081" "{PMID:Abdel-Hamid 2017:28390064}" "" "F" "yes" "Egypt" "" "0" "" "" "" "Patient_5" "00155276" "" "" "" "1" "" "00081" "{PMID:Abdel-Hamid 2017:28390064}" "" "F" "no" "Egypt" "" "0" "" "" "" "Patient_6" "00155277" "" "" "" "2" "" "00081" "{PMID:Abdel-Hamid 2017:28390064}" "cousin with Patient_8" "M" "yes" "Egypt" "" "0" "" "" "" "Patient_7" "00155278" "" "" "00155277" "1" "" "00081" "{PMID:Abdel-Hamid 2017:28390064}" "cousin with Patient_7" "F" "no" "Egypt" "" "0" "" "" "" "Patient_8" "00155279" "" "" "" "2" "" "00081" "{PMID:Abdel-Hamid 2017:28390064}" "" "M" "yes" "Egypt" "" "0" "" "" "" "Patient_9" "00155280" "" "" "00155279" "1" "" "00081" "{PMID:Abdel-Hamid 2017:28390064}" "" "M" "yes" "Egypt" "" "0" "" "" "" "Patient_10" "00155283" "" "" "" "2" "" "00081" "{PMID:Pagnamenta 2017:28327575}" "" "F" "no" "" "" "0" "" "" "white" "257982" "00155284" "" "" "00155283" "1" "" "00081" "{PMID:Pagnamenta 2017:28327575}" "brother of individual 257982" "M" "no" "" "" "0" "" "" "white" "" "00155285" "" "" "" "2" "" "00081" "{PMID:Nampoothiri 2017:28794914}" "" "M" "yes" "Oman" "" "0" "" "" "" "IV-1" "00155286" "" "" "00155285" "1" "" "00081" "{PMID:Nampoothiri 2017:28794914}" "" "F" "yes" "Oman" "" "0" "" "" "" "IV-2" "00207386" "" "" "" "1" "" "00081" "{PMID:Balobaid et al., 2018:30345601}" "" "F" "yes" "Saudi Arabia" ">09y" "0" "" "anti-epileptic medications" "Middle Eastern" "I-1" "00207387" "" "" "" "1" "" "00081" "{PMID:Balobaid et al., 2018:30345601}" "" "F" "yes" "Oman" ">04y" "0" "" "anti-epileptic medications" "Middle Eastern" "VIII-2" "00207388" "" "" "" "1" "" "00081" "{PMID: Balobaid et al., 2018:30345601}" "" "M" "yes" "Oman" ">07y" "0" "" "anti-epileptic medications" "Middle Eastern" "VIII-1" "00207389" "" "" "" "1" "" "00081" "{PMID:Balobaid et al., 2018:30345601}" "" "F" "yes" "Oman" ">05y" "0" "" "" "Middle Eastern" "VII-2" "00207390" "" "" "" "1" "" "00081" "{PMID: Balobaid et al., 2018:30345601}" "" "F" "yes" "Oman" ">09y" "0" "" "" "Middle Eastern" "VII-1" "00207391" "" "" "" "1" "" "00081" "{PMID:Balobaid 2018:30345601}" "" "F" "no" "Qatar" ">06y" "0" "" "" "Middle Eastern" "VI-1" "00207392" "" "" "" "1" "" "00081" "{PMID:Balobaid 2018:30345601}" "" "F" "yes" "Qatar" ">02y03m" "0" "" "" "Middle Eastern" "V-1" "00207393" "" "" "" "1" "" "00081" "{PMID:Balobaid 2018:30345601}" "" "F" "yes" "Qatar" ">10y" "0" "" "" "Middle Eastern" "IV-2" "00207394" "" "" "" "1" "" "00081" "{PMID:Balobaid 2018:30345601}" "" "F" "yes" "Qatar" ">13y" "0" "" "" "Middle Eastern" "IV-1" "00207395" "" "" "" "1" "" "00081" "{PMID:Balobaid et al., 2018:30345601}" "" "M" "yes" "Saudi Arabia" ">03y" "0" "" "" "Middle Eastern" "III-2" "00207396" "" "" "" "1" "" "00081" "{PMID:Balobaid et al., 2018:30345601}" "" "F" "yes" "Saudi Arabia" ">09y" "0" "" "anti-epileptic medications" "Middle Eastern" "III-1" "00207397" "" "" "" "1" "" "00081" "{PMID:Balobaid et al., 2018:30345601}" "" "M" "yes" "Saudi Arabia" ">03y" "0" "" "" "Middle Eastern" "II-2" "00207398" "" "" "" "1" "" "00081" "{PMID:Balobaid et al., 2018:30345601}" "" "M" "yes" "Saudi Arabia" ">08y" "0" "" "anti-epileptic medications" "Middle Eastern" "II-1" "00207399" "" "" "" "1" "" "00081" "{PMID:Balobaid et al., 2018:30345601}" "" "F" "yes" "Saudi Arabia" ">06y" "0" "" "" "Middle Eastern" "I-2" "00207400" "" "" "" "1" "" "00081" "{PMID:Akgün Doğan et al., 2018:30217754}" "Second child of the parents (first cousin marriage), born via cesarean delivery at term. Died due to aspiration pneumonia-related respiratory distress." "M" "yes" "" "00y18m" "0" "" "" "" "Patient 1" "00207401" "" "" "" "1" "" "00081" "{PMID:Akgün Doğan et al., 2018:30217754}" "3rd child of parents (first cousin marriage), younger sister of patient 1, born via cesarean delivery at 36 weeks" "F" "yes" "" ">00y01m" "0" "" "" "" "Patient 2" "00207402" "" "" "" "1" "" "00081" "{PMID:Yavarna et al., 2015:26077850}" "Paper presents a compilation of many genes. No detailed information on specific PGAP3 patients." "" "" "" "" "0" "" "" "Middle Eastern" "PGAP3 (2x)_individual 1" "00207403" "" "" "" "1" "" "00081" "{PMID:Yavarna et al., 2015:26077850}" "Paper presents a compilation of many genes. No detailed information on patient." "" "" "" "" "0" "" "" "Middle Eastern" "PGAP3 (2x)_individual 2" "00207405" "" "" "" "1" "" "00081" "{PMID:Sakaguchi et al., 2018:29531774}" "Novel homozygous PGAP3 mutation (c.314C>A, p.Pro105Gln) in a Croatian patient. Born to healthy and nonconsanguineous parents (from the same region) after an uneventful pregnancy." "M" "no" "Croatia (Hrvatska)" ">08y" "0" "" "Orthotics at 6 years with no improvements, intensive physical therapy for the marked generalized hypotonia. Phenobarbital and Valproate for seizures. 200 mg of pyridoxine daily for neuronal symptoms." "Croatian" "II-1" "00331543" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "17DG0809" "00331544" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "14DG0578" "00331545" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "12DG2300 , 12DG2301" "00331546" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2F)" "F" "yes" "" "" "0" "" "" "Arab" "14DG0816 , 16DG0111" "00331547" "" "" "" "3" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 3 affected (F, 2M)" "F;M" "yes" "" "" "0" "" "" "Arab" "14DG2083 , 14DG2084, 14DG2085" "00387892" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals" "" "" "Iran" "" "0" "" "" "Persia" "M9000136" "00426144" "" "" "" "1" "" "00006" "{PMID:Al-Kasbi 2022:36344539}" "patient, other affecteds in family" "M" "" "Oman" "" "0" "" "" "" "10MS6600" "00440457" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3570.1" "00469196" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469197" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 56 "{{individualid}}" "{{diseaseid}}" "00025462" "04060" "00025463" "04060" "00025464" "04060" "00080958" "04060" "00155253" "00541" "00155254" "00541" "00155255" "00541" "00155256" "00541" "00155267" "00541" "00155268" "00541" "00155269" "00541" "00155270" "00541" "00155271" "00541" "00155272" "00541" "00155273" "00541" "00155274" "00541" "00155275" "00541" "00155276" "00541" "00155277" "00541" "00155278" "00541" "00155279" "00541" "00155280" "00541" "00155283" "05162" "00155284" "05162" "00155285" "05162" "00155286" "05162" "00155286" "05402" "00207386" "04060" "00207387" "04060" "00207388" "04060" "00207389" "04060" "00207390" "04060" "00207391" "04060" "00207392" "04060" "00207393" "04060" "00207394" "04060" "00207395" "04060" "00207396" "04060" "00207397" "04060" "00207398" "04060" "00207399" "04060" "00207400" "04060" "00207401" "04060" "00207402" "04060" "00207403" "04060" "00207405" "04060" "00331543" "05517" "00331544" "05517" "00331545" "05517" "00331546" "05517" "00331547" "05517" "00387892" "00139" "00426144" "00139" "00440457" "00198" "00469196" "00198" "00469197" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00541, 04060, 05162, 05402, 05517 ## Count = 33 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000021575" "04060" "00025462" "00081" "Familial, autosomal recessive" "" "All three children presented profound developmental delay, severe learning disability, no speech, psychomotor delay, postnatal microcephaly, and high levels of serum ALP. 2 over three had generalized tonic-clonic seizures. All had involuntary midline hand movements, and bruxism. Facial features included apparent hypertelorism, Upslanting palpebral fissures, Broad nasal bridge and nasal tip, short nose, Tented upper-lip vermilion, Large, fleshy ear lobes, cleft lip in 2 over 3," "" "" "" "" "" "" "" "" "" "" "" "0000021576" "04060" "00025463" "00081" "Familial, autosomal recessive" "10y" "She presented global development delay, elevated serum ALP levels, and tonic-clonic and cluster seizures. Facial features included apparent hypertelorism, broad nasal bridge and nasal tip, short nose, Tented upper-lip vermilion ." "" "" "" "" "" "" "" "" "" "" "" "0000021577" "04060" "00025464" "00081" "Familial, autosomal recessive" "02y" "She had severe psychomotor delay. Myoclonic seizures started in her second year of life. Physical examination of this 2-year-old female showed normal growth parameters and OFC but axial muscular hypotonia, uncoordinated movements, and facial dysmorphism including hypertelorism, short nose with broad bridge and tip, Tented upper-lip vermilion and Large, fleshy ear lobes. ALP activity was elevated." "" "" "" "" "" "" "" "" "" "" "" "0000060527" "04060" "00080958" "01758" "Familial, autosomal recessive" "" "Hyperphosphatasia with mental retardation syndrome 4 (OMIM:615716)" "" "" "" "" "" "" "" "" "" "" "" "0000155157" "04060" "00207386" "00081" "Familial, autosomal recessive" "08y" "Severe psychomotor delay, ID, delay speech, behaviour difficulties, seizures, facial dysmorphism, muscular hypotonia, MRI abnormalities (Dandy walker malformation), High ALP levels (703 U/L)" "" "" "" "" "" "" "" "" "" "" "" "0000155158" "04060" "00207387" "00081" "Familial, autosomal recessive" "04y" "Severe psychomotor delay, ID, delay speech, behaviour difficulties, seizures, Facial dysmorphism, Muscular hypotonia, cleft palate, High ALP levels (>600 U/L)" "" "" "" "" "" "" "" "" "" "" "" "0000155159" "04060" "00207388" "00081" "Familial, autosomal recessive" "07y" "Severe psychomotor delay, ID, delay speech, behaviour difficulties, seizures, Facial dysmorphism, Muscular hypotonia, MRI abnormalities (cortical dysplasia), cleft palate, High ALP levels (>600 U/L)" "" "" "" "" "" "" "" "" "" "" "" "0000155160" "04060" "00207389" "00081" "Familial, autosomal recessive" "04y" "Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, Other findings (obesity), High ALP levels (>800 U/L)" "" "" "" "" "" "" "" "" "" "" "" "0000155161" "04060" "00207390" "00081" "Familial, autosomal recessive" "08y" "Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, heart abnormalities (multiple atrial septal defect (ASD)), cleft palate, Other findings (abnormal teeth), High ALP levels (>800 U/L)" "" "" "" "" "" "" "" "" "" "" "" "0000155162" "04060" "00207391" "00081" "Familial, autosomal recessive" "06y" "Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, Other findings (laryngomalacia), High ALP levels (1123 U/L)" "" "" "" "" "" "" "" "" "" "" "" "0000155163" "04060" "00207392" "00081" "Familial, autosomal recessive" "00y00m01d" "Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, skeletal abnormalities (congenital hip dysplasia), opthalmological abnormalities (megalocornea), Heart abnormalities (Small ASD), Cleft palate, High ALP levels (1212 U/L)" "" "" "" "" "" "" "" "" "" "" "" "0000155164" "04060" "00207393" "00081" "Familial, autosomal recessive" "10y" "Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, MRI abnormalities (Rathke cleft cyst), Cleft palate, Other findings (abnormal teeth), High ALP levels (848 U/L)" "" "" "" "" "" "" "" "" "" "" "" "0000155165" "04060" "00207394" "00081" "Familial, autosomal recessive" "13y" "Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, MRI abnormalities (hypoplasia of cerebral vermis), skeletal abnormalities (captodactly of 5th finger), Cleft palate, Other findings (abnormal teeth), High ALP levels (848 U/L)" "" "" "" "" "" "" "" "" "" "" "" "0000155166" "04060" "00207395" "00081" "Familial, autosomal recessive" "02y" "Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, skeletal abnormalities (fractures), Opthalmological abnormalities (megalocornea), Heart abnormalities (repaired arterial septal defect (ASD)), Other findings (hyperpigmented macules of the LT upper thigh, inguinal hernia, abnormal teeth), High ALP levels (1340 U/L)" "" "" "" "" "" "" "" "" "" "" "" "0000155167" "04060" "00207396" "00081" "Familial, autosomal recessive" "08y" "Severe psychomotor delay, ID, delay speech, behaviour difficulties, Seizures (age at onset: 4 years, treatable), Facial dysmorphism, Muscular hypotonia, Opthalmological abnormalities (megalocornea), High ALP levels (1103 U/L)" "" "" "" "" "" "" "" "" "" "" "" "0000155168" "04060" "00207397" "00081" "Familial, autosomal recessive" "02y" "Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, Opthalmological abnormalities (megalocornea), Otological abnormalities (severe bilateral hearing loss), Cleft palate, High ALP levels (890 U/L)" "" "" "" "" "" "" "" "" "" "" "" "0000155169" "04060" "00207398" "00081" "Familial, autosomal recessive" "07y" "Severe psychomotor delay, ID, delay speech, behaviour difficulties, Seizure (multifocal epileptic foci from both hemispheres), Facial dysmorphism, Muscular hypotonia, skeletal abnormalities (bilateral coxa valga), Opthalmological abnormalities (megalocornea), cleft palate, Other findings (bilateral inguinal hernia, undescended testes, abnormal teeth), High ALP levels (644 U/L)." "" "" "" "" "" "" "" "" "" "" "" "0000155170" "04060" "00207399" "00081" "Familial, autosomal recessive" "05y" "Severe psychomotor delay, ID, delay speech, behaviour difficulties, facial dysmorphism, muscular hypotonia, MRI abnormalities (Dandy walker malformation), skeletal abnormalities (pectus excavatum, bilateral coxa valga), Otological abnormalities (mild hearing loss), cleft palate, High ALP levels (883.2 U/L)" "" "" "" "" "" "" "" "" "" "" "" "0000155171" "04060" "00207400" "00081" "Familial, autosomal recessive" "00y00m54d" "Dysmorphic features (tented thin upper lip, broad nasal bridge, hypertelorism, large fleshy ear lobes, short upturned nose, cleft palate, upslanted palpebral fissures, long philtrum, brachycephaly, large anterior fontanel size), Postnatal microcephaly, Short stature, Neurological abnormalities (global DD, Hypotonia), Brain abnormalities (thin/dysgenetic corpus callosum, mild ventriculomegaly, frontoparietal atrophy), Dysphagia, CVS Anomalies (patent foramen ovale (PFO)), Extremity abnormalities (brittle/hypoplastic nails, thin/sparse hair), Others (inguinal hernia, intestinal malrotation, ear pit nystagmus), ALP levels (672-837 U/L)." "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000155172" "04060" "00207401" "00081" "Familial, autosomal recessive" "00y01m" "Dysmorphic features (tented thin upper lip, broad nasal bridge, hypertelorism, large fleshy ear lobes, short upturned nose, upslanted palpebral fissures, long philtrum, brachycephaly, large anterior fontanel size, gum hypertrophy), Neurological abnormalities (global DD, Hypotonia), Brain abnormalities (thin/dysgenetic corpus callosum), Dysphagia, CVS Anomalies (patent ductus arteriosus (PDA), concentric ventricle hypertrophy), Extremity abnormalities (pes equinovarus, thin/sparse hair), Others (umbilical hernia, pectus excavatum), ALP levels (756-821 U/L)" "<00y01m" "" "" "" "" "" "" "" "" "" "" "0000155173" "04060" "00207402" "00081" "Familial, autosomal recessive" "" "ID, global DD, epilepsy, dysmorphism, microcephaly and other structural brain anomalies, autism" "" "" "" "" "" "" "" "" "" "" "" "0000155174" "04060" "00207403" "00081" "Familial, autosomal recessive" "" "ID, global DD, epilepsy, dysmorphism, microcephaly and other structural brain anomalies, autism" "" "" "" "" "" "" "" "" "" "" "" "0000155176" "04060" "00207405" "00081" "Familial, autosomal recessive" "01y" "Multiple congenital anomalies (broad nasal bridge, tented upper lip vermilion, cleft palate, low set ears, micrognathia, retrognathia, brachytelephalangy, left sided cryptorchidism, wide feet, and broad toes). Progressive thoracic scoliosis. Hypotonia. Recurrent generalized seizures with dysrhythmic electroencephalographic paroxysmal changes. Thin corpus callosum. Severe psychomotor developmental delay, autistic behavior, and bruxism. Vision and hearing are normal, but cannot control egestion. Elevated ALP levels." "" ">06y" "" "" "" "" "" "" "" "" "" "0000249735" "05517" "00331543" "00000" "Familial, autosomal recessive" "" "Hypoglycemia, Feeding difficulties in infancy, Bifid uvula, Recurrent infections, Febrile seiz Yes" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" "0000249736" "05517" "00331544" "00000" "Familial, autosomal recessive" "" "Megalocornea, Global developmental delay, Buphthalmos, Overfolded helix, MicrognathiaYes" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" "0000249737" "05517" "00331545" "00000" "Familial, autosomal recessive" "" "Diaphragmatic eventration, Global developmental delay, Microcephaly, Seizures, RecurrenNo" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" "0000249738" "05517" "00331546" "00000" "Familial, autosomal recessive" "" "Aplasia/Hypoplasia of the cerebellar vermis, Enlarged cisterna magna, Multicystic kidney No" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" "0000249739" "05517" "00331547" "00000" "Familial, autosomal recessive" "" "Nonprogressive encephalopathy, Global developmental delay, Bulbous nose, Epicanthus, No" "" "" "" "" "" "" "" "" "" "skeletal dysplasia" "" "0000281460" "00139" "00387892" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly, epilepsy" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000317294" "00139" "00426144" "00006" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "Hyperphosphatasia with mental retardation syndrome 4" "intellectual disability" "" "0000330367" "00198" "00440457" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Hyperphosphatasia with mental retardation syndrome-4 (MIM #615716)" "" "" "0000354349" "00198" "00469196" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of metabolism/homeostasis" "" "0000354350" "00198" "00469197" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of metabolism/homeostasis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 55 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000025464" "00025462" "1" "00081" "00081" "2014-12-08 17:43:29" "" "" "SEQ-NG" "DNA" "" "" "0000025465" "00025463" "1" "00081" "00081" "2014-12-08 18:15:50" "" "" "SEQ-NG" "DNA" "" "" "0000025466" "00025464" "1" "00081" "00081" "2014-12-08 19:01:47" "" "" "SEQ-NG" "DNA" "" "" "0000081070" "00080958" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000156117" "00155253" "1" "00081" "00081" "2018-03-19 21:06:17" "" "" "SEQ-NG" "DNA;RNA" "fibroblasts or blood" "exome sequencing" "0000156118" "00155254" "1" "00081" "00081" "2018-03-19 21:17:34" "" "" "SEQ-NG" "DNA;RNA" "fibroblasts or blood" "exome sequencing" "0000156119" "00155255" "1" "00081" "00081" "2018-03-19 21:26:59" "" "" "SEQ-NG" "DNA;RNA" "fibroblasts or blood" "exome sequencing" "0000156120" "00155256" "1" "00081" "00081" "2018-03-19 21:31:51" "" "" "SEQ-NG" "DNA;RNA" "fibroblasts or blood" "exome sequencing" "0000156131" "00155267" "1" "00081" "00081" "2018-03-19 21:45:09" "" "" "SEQ-NG" "DNA;RNA" "fibroblasts or blood" "exome sequencing" "0000156132" "00155268" "1" "00081" "00081" "2018-03-19 21:51:46" "" "" "SEQ-NG" "DNA;RNA" "fibroblasts or blood" "exome sequencing" "0000156133" "00155269" "1" "00081" "00081" "2018-03-19 21:54:55" "" "" "SEQ-NG" "DNA;RNA" "fibroblasts or blood" "exome sequencing" "0000156134" "00155270" "1" "00081" "00081" "2018-03-19 21:58:45" "" "" "SEQ-NG" "DNA;RNA" "fibroblasts or blood" "exome sequencing" "0000156135" "00155271" "1" "00081" "00081" "2018-03-19 22:24:03" "" "" "SEQ" "DNA" "peripheral blood leukocytes" "" "0000156136" "00155272" "1" "00081" "00081" "2018-03-19 22:31:50" "" "" "SEQ" "DNA" "peripheral blood leukocytes" "" "0000156137" "00155273" "1" "00081" "00081" "2018-03-19 22:34:38" "" "" "SEQ" "DNA" "peripheral blood leukocytes" "" "0000156138" "00155274" "1" "00081" "00081" "2018-03-19 22:37:53" "" "" "SEQ" "DNA" "peripheral blood leukocytes" "" "0000156139" "00155275" "1" "00081" "00081" "2018-03-19 22:42:11" "" "" "SEQ" "DNA" "peripheral blood leukocytes" "" "0000156140" "00155276" "1" "00081" "00081" "2018-03-19 22:45:34" "" "" "SEQ" "DNA" "peripheral blood leukocytes" "" "0000156141" "00155277" "1" "00081" "00081" "2018-03-19 22:49:26" "" "" "SEQ" "DNA" "peripheral blood leukocytes" "" "0000156142" "00155278" "1" "00081" "00081" "2018-03-19 22:51:50" "" "" "SEQ" "DNA" "peripheral blood leukocytes" "" "0000156143" "00155279" "1" "00081" "00081" "2018-03-19 22:54:22" "" "" "SEQ" "DNA" "peripheral blood leukocytes" "" "0000156144" "00155280" "1" "00081" "00081" "2018-03-19 22:56:21" "" "" "SEQ" "DNA" "peripheral blood leukocytes" "" "0000156147" "00155283" "1" "00081" "00081" "2018-03-20 15:51:52" "" "" "SEQ-NG" "DNA" "Blood" "WES" "0000156148" "00155284" "1" "00081" "00081" "2018-03-20 15:58:16" "" "" "SEQ" "DNA" "" "" "0000156149" "00155285" "1" "00081" "00081" "2018-03-20 16:39:50" "" "" "SEQ-NG" "DNA" "" "WES" "0000156150" "00155286" "1" "00081" "00081" "2018-03-20 16:45:52" "" "" "SEQ-NG" "DNA" "" "WES" "0000208423" "00207386" "1" "00081" "00081" "2018-11-20 19:21:25" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES" "0000208424" "00207387" "1" "00081" "00081" "2018-11-20 19:44:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES, Homozygosity mapping" "0000208425" "00207388" "1" "00081" "00081" "2018-11-20 19:56:56" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES, homozygosity by descent" "0000208426" "00207389" "1" "00081" "00081" "2018-11-20 20:03:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES, homozygosity by descent" "0000208427" "00207390" "1" "00081" "00081" "2018-11-20 20:12:22" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES, homozygosity by descent" "0000208428" "00207391" "1" "00081" "00081" "2018-11-20 20:17:13" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood" "WES" "0000208429" "00207392" "1" "00081" "00081" "2018-11-20 20:22:04" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood" "WES, Targeted mutation analysis" "0000208430" "00207393" "1" "00081" "00081" "2018-11-20 20:25:47" "00081" "2018-11-20 20:28:06" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES" "0000208431" "00207394" "1" "00081" "00081" "2018-11-20 20:31:31" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES" "0000208432" "00207395" "1" "00081" "00081" "2018-11-20 20:36:06" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES" "0000208433" "00207396" "1" "00081" "00081" "2018-11-20 20:47:10" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES" "0000208434" "00207397" "1" "00081" "00081" "2018-11-20 20:55:11" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES" "0000208435" "00207398" "1" "00081" "00081" "2018-11-20 21:03:17" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES" "0000208436" "00207399" "1" "00081" "00081" "2018-11-20 21:07:40" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES" "0000208437" "00207400" "1" "00081" "00081" "2018-11-20 21:22:11" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES, emulsion PCR" "0000208438" "00207401" "1" "00081" "00081" "2018-11-20 21:31:13" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES, emulsion PCR" "0000208439" "00207402" "1" "00081" "00081" "2018-11-20 21:36:41" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "Clinical Exome sequencing" "0000208440" "00207403" "1" "00081" "00081" "2018-11-20 21:42:07" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "Clinical Exome Sequencing" "0000208442" "00207405" "1" "00081" "00081" "2018-11-20 22:20:47" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral blood" "WES" "0000332762" "00331543" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332763" "00331544" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332764" "00331545" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332765" "00331546" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332766" "00331547" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000389123" "00387892" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000427464" "00426144" "1" "00006" "00006" "2022-11-28 11:02:11" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441942" "00440457" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470864" "00469196" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470865" "00469197" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{geneid}}" "0000025464" "PGAP3" "0000025465" "PGAP3" "0000025466" "PGAP3" "0000081070" "PGAP3" "0000156135" "PGAP3" "0000156136" "PGAP3" "0000156137" "PGAP3" "0000156138" "PGAP3" "0000156139" "PGAP3" "0000156140" "PGAP3" "0000156141" "PGAP3" "0000156142" "PGAP3" "0000156143" "PGAP3" "0000156144" "PGAP3" "0000156148" "PGAP3" "0000208423" "PGAP3" "0000208424" "PGAP3" "0000208425" "PGAP3" "0000208426" "PGAP3" "0000208427" "PGAP3" "0000208428" "PGAP3" "0000208429" "PGAP3" "0000208430" "PGAP3" "0000208431" "PGAP3" "0000208432" "PGAP3" "0000208433" "PGAP3" "0000208434" "PGAP3" "0000208435" "PGAP3" "0000208436" "PGAP3" "0000208437" "PGAP3" "0000208438" "PGAP3" "0000208439" "PGAP3" "0000208440" "PGAP3" "0000208442" "PGAP3" "0000332762" "PGAP3" "0000332763" "PGAP3" "0000332764" "PGAP3" "0000332765" "PGAP3" "0000332766" "PGAP3" "0000389123" "PGAP3" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 102 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000048344" "3" "99" "17" "37842179" "37842179" "subst" "0" "00081" "PGAP3_000001" "g.37842179C>T" "" "{PMID:Howard et al. 2014 :24439110}" "" "" "This mutation causes a substitution at a highly conserved residue in a juxtamembrane position on the luminal side. This mutation was absent in the Exome Variant Server, dbSNP (build 137), or 1000 Genomes Project databases, or in 108 ethnically matched controls. CHO cells showed that the mutant G92D protein had almost no or absent enzyme activity. Mutant PGAP3 cDNA bearing G92D did not reduce or reduced only slightly the surface levels of CD59, CD55 and uPAR indicating that the substitution caused a null or nearly null phenotype." "Germline" "yes" "rs587777251" "0" "" "" "g.39685926C>T" "" "pathogenic" "" "0000048345" "21" "90" "17" "37829105" "37829105" "subst" "2.0389E-5" "00081" "PGAP3_000002" "g.37829105T>C" "" "{PMID:Howard et al. 2014: 24439110}" "" "" "CHO cell line defective in both PGAP3 have GPI-APs at mildly reduced levels because of a lack of GPI fatty acid remodelling. When wild-type PGAP3 cDNA was transfected, the first step in the fatty acid remodelling was restored, whereas the second step remained defective, leading to the release of lyso-GPI intermediates and resulting in a severe reduction in the surface levels of GPI-APs. Mutant PGAP3 cDNA bearing the mutation p.Asp305Gly significantly reduced levels of all three GPI-APs, indicating some residual activity. The p.Asp305Gly protein was readily detectable but had immature N-glycan and was mislocalized in the ER by immunoblot." "Germline" "yes" "rs587777252" "0" "" "" "g.39672852T>C" "" "pathogenic" "" "0000048346" "11" "90" "17" "37830928" "37830928" "dup" "0" "00081" "PGAP3_000003" "g.37830928dup" "" "{PMID:Howard et al. 2014:24439110}" "" "" "In vitro functional expression studies in CHO cells showed that the mutant c.439dupC mutant had no residual enzyme activity, and was likely degraded by nonsense-mediated mRNA decay. Flow cytometric analysis of patient cells showed a reduction in the cell surface levels of GPI-anchored proteins." "Germline" "yes" "" "0" "" "" "g.39674675dup" "" "pathogenic" "" "0000048348" "3" "90" "17" "37840968" "37840968" "subst" "0" "00081" "PGAP3_000004" "g.37840968G>C" "" "{PMID:Howard et al. 2014:24439110}" "" "" "Substitution at a highly conserved residue in the first transmembrane domain. The mutation was absent in 52 Arabic controls or in the Exome Variant Server database. CHO cells showed that the mutant P105R protein had low residual enzyme activity. Electrophoresis and immunoblotting studies showed that the P105R protein had only immature ER-form N-glycan and did not localize properly to the Golgi, but was retained in the ER." "Germline" "yes" "rs371549948" "0" "" "" "g.39684715G>C" "" "pathogenic" "" "0000130156" "3" "70" "17" "37829095" "37829095" "subst" "0" "01758" "PGAP3_000005" "g.37829095G>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.39672842G>T" "" "likely pathogenic" "ACMG" "0000267860" "0" "10" "17" "37868715" "37868715" "subst" "0.607852" "02325" "ERBB2_000001" "g.37868715C>T" "" "" "" "ERBB2(NM_001005862.3):c.1058+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39712462C>T" "" "benign" "" "0000267861" "0" "10" "17" "37884037" "37884037" "subst" "0.611757" "02325" "ERBB2_000004" "g.37884037C>G" "" "" "" "ERBB2(NM_001005862.3):c.3418C>G (p.P1140A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39727784C>G" "" "benign" "" "0000276225" "0" "30" "17" "37881961" "37881961" "subst" "8.18237E-6" "01943" "ERBB2_000003" "g.37881961T>G" "" "" "" "ERBB2(NM_001289936.1):c.2682T>G (p.G894=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39725708T>G" "" "likely benign" "" "0000296932" "0" "50" "17" "37829376" "37829376" "subst" "5.62775E-5" "02325" "PGAP3_000006" "g.37829376G>A" "" "" "" "PGAP3(NM_033419.5):c.827C>T (p.(Pro276Leu), p.P276L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39673123G>A" "" "VUS" "" "0000314452" "0" "30" "17" "37822438" "37822438" "subst" "0" "02326" "TCAP_000027" "g.37822438G>T" "" "" "" "TCAP(NM_003673.3):c.*76G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39666185G>T" "" "likely benign" "" "0000325372" "0" "30" "17" "37840878" "37840878" "subst" "0.000293005" "01804" "PGAP3_000007" "g.37840878A>G" "" "" "" "PGAP3(NM_033419.3):c.404T>C (p.(Met135Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39684625A>G" "" "likely benign" "" "0000346441" "0" "50" "17" "37829353" "37829353" "subst" "0" "02327" "PGAP3_000008" "g.37829353G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39673100G>A" "" "VUS" "" "0000349737" "0" "50" "17" "37829490" "37829492" "del" "0" "02327" "PGAP3_000009" "g.37829490_37829492del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39673237_39673239del" "" "VUS" "" "0000358012" "0" "70" "17" "37840962" "37840962" "subst" "0.000127978" "00081" "PGAP3_000011" "g.37840962G>A" "" "{PMID:Knaus et al. 2016:27120253}" "" "" "" "Unknown" "" "" "0" "" "" "g.39684709G>A" "" "likely pathogenic" "" "0000358013" "0" "70" "17" "37829913" "37829913" "subst" "6.98697E-5" "00081" "PGAP3_000012" "g.37829913C>T" "" "{PMID:Knaus et al. 2016:27120253}" "" "" "" "Unknown" "" "" "0" "" "" "g.39673660C>T" "" "likely pathogenic" "" "0000358014" "11" "70" "17" "37840884" "37840884" "dup" "0" "00081" "PGAP3_000013" "g.37840884dup" "" "{PMID:Knaus et al. 2016:27120253}" "" "" "" "Germline" "" "" "0" "" "" "g.39684631dup" "" "likely pathogenic" "" "0000358015" "21" "70" "17" "37829913" "37829913" "subst" "6.98697E-5" "00081" "PGAP3_000012" "g.37829913C>T" "" "{PMID:Knaus et al. 2016:27120253}" "" "" "" "Germline" "" "" "0" "" "" "g.39673660C>T" "" "likely pathogenic" "" "0000358016" "11" "70" "17" "37829342" "37829342" "subst" "0" "00081" "PGAP3_000014" "g.37829342C>A" "" "{PMID:Knaus et al. 2016:27120253}" "" "" "" "Germline" "" "" "0" "" "" "g.39673089C>A" "" "likely pathogenic" "" "0000358017" "21" "70" "17" "37828497" "37828497" "subst" "0" "00081" "PGAP3_000015" "g.37828497G>A" "" "{PMID:Knaus et al. 2016:27120253}" "" "" "" "Germline" "" "" "0" "" "" "g.39672244G>A" "" "likely pathogenic" "" "0000358018" "11" "70" "17" "37829342" "37829342" "subst" "0" "00081" "PGAP3_000014" "g.37829342C>A" "" "{PMID:Knaus et al. 2016:27120253}" "" "" "" "Germline" "" "" "0" "" "" "g.39673089C>A" "" "likely pathogenic" "" "0000358019" "21" "70" "17" "37828497" "37828497" "subst" "0" "00081" "PGAP3_000015" "g.37828497G>A" "" "{PMID:Knaus et al. 2016:27120253}" "" "" "" "Germline" "" "" "0" "" "" "g.39672244G>A" "" "likely pathogenic" "" "0000358030" "11" "70" "17" "37840962" "37840962" "subst" "0.000127978" "00081" "PGAP3_000011" "g.37840962G>A" "" "{PMID:Knaus et al. 2016:27120253}" "" "" "" "Germline" "" "" "0" "" "" "g.39684709G>A" "" "likely pathogenic" "" "0000358031" "21" "70" "17" "37829105" "37829105" "subst" "2.0389E-5" "00081" "PGAP3_000002" "g.37829105T>C" "" "{PMID:Knaus et al. 2016:27120253}" "" "" "" "Germline" "" "" "0" "" "" "g.39672852T>C" "" "likely pathogenic" "" "0000358032" "3" "70" "17" "37829358" "37829358" "subst" "0" "00081" "PGAP3_000016" "g.37829358T>C" "" "{PMID:Knaus et al. 2016:27120253}" "" "" "" "Germline" "" "" "0" "" "" "g.39673105T>C" "" "likely pathogenic" "" "0000358033" "3" "70" "17" "37829358" "37829358" "subst" "0" "00081" "PGAP3_000016" "g.37829358T>C" "" "{PMID:Knaus et al. 2016:27120253}" "" "" "" "Germline" "" "" "0" "" "" "g.39673105T>C" "" "likely pathogenic" "" "0000358034" "21" "70" "17" "37830292" "37830292" "subst" "0" "00081" "PGAP3_000017" "g.37830292A>G" "" "{PMID:Knaus et al. 2016:27120253}" "" "" "" "Germline" "" "" "0" "" "" "g.39674039A>G" "" "likely pathogenic" "" "0000358035" "11" "70" "17" "37829361" "37829361" "subst" "0" "00081" "PGAP3_000018" "g.37829361A>G" "" "{PMID:Knaus et al. 2016:27120253}" "" "" "" "Germline" "" "" "0" "" "" "g.39673108A>G" "" "likely pathogenic" "" "0000358037" "3" "70" "17" "37840884" "37840884" "dup" "0" "00081" "PGAP3_000013" "g.37840884dup" "" "{PMID:Abdel-Hamid et al. 2017:28390064}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39684631dup" "" "likely pathogenic" "" "0000358038" "3" "70" "17" "37840884" "37840884" "dup" "0" "00081" "PGAP3_000013" "g.37840884dup" "" "{PMID:Abdel-Hamid et al. 2017:28390064}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39684631dup" "" "likely pathogenic" "" "0000358039" "3" "70" "17" "37840884" "37840884" "dup" "0" "00081" "PGAP3_000013" "g.37840884dup" "" "{PMID:Abdel-Hamid et al. 2017:28390064}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39684631dup" "" "likely pathogenic" "" "0000358040" "3" "70" "17" "37840884" "37840884" "dup" "0" "00081" "PGAP3_000013" "g.37840884dup" "" "{PMID:Abdel-Hamid et al. 2017:28390064}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39684631dup" "" "likely pathogenic" "" "0000358041" "3" "70" "17" "37829384" "37829387" "del" "0" "00081" "PGAP3_000019" "g.37829384_37829387del" "" "{PMID:Abdel-Hamid et al. 2017:28390064}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39673131_39673134del" "" "likely pathogenic" "" "0000358042" "3" "70" "17" "37840884" "37840884" "dup" "0" "00081" "PGAP3_000013" "g.37840884dup" "" "{PMID:Abdel-Hamid et al. 2017:28390064}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39684631dup" "" "likely pathogenic" "" "0000358043" "3" "70" "17" "37840884" "37840884" "dup" "0" "00081" "PGAP3_000013" "g.37840884dup" "" "{PMID:Abdel-Hamid et al. 2017:28390064}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39684631dup" "" "likely pathogenic" "" "0000358044" "3" "70" "17" "37840884" "37840884" "dup" "0" "00081" "PGAP3_000013" "g.37840884dup" "" "{PMID:Abdel-Hamid et al. 2017:28390064}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39684631dup" "" "likely pathogenic" "" "0000358045" "3" "70" "17" "37840884" "37840884" "dup" "0" "00081" "PGAP3_000013" "g.37840884dup" "" "{PMID:Abdel-Hamid et al. 2017:28390064}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39684631dup" "" "likely pathogenic" "" "0000358046" "3" "70" "17" "37840884" "37840884" "dup" "0" "00081" "PGAP3_000013" "g.37840884dup" "" "{PMID:Abdel-Hamid et al. 2017:28390064}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39684631dup" "" "likely pathogenic" "" "0000358047" "11" "70" "17" "37829105" "37829105" "subst" "2.0389E-5" "00081" "PGAP3_000002" "g.37829105T>C" "" "{PMID:Pagnamenta et al. 2017:28327575}" "" "" "" "Germline" "" "" "0" "" "" "g.39672852T>C" "" "likely pathogenic" "" "0000358048" "21" "70" "17" "37840962" "37840962" "subst" "0.000127978" "00081" "PGAP3_000011" "g.37840962G>A" "" "{PMID:Pagnamenta et al. 2017:28327575}" "" "" "" "Germline" "" "" "0" "" "" "g.39684709G>A" "" "likely pathogenic" "" "0000358049" "11" "70" "17" "37829105" "37829105" "subst" "2.0389E-5" "00081" "PGAP3_000002" "g.37829105T>C" "" "{PMID:Pagnamenta et al. 2017:28327575}" "" "" "" "Germline" "" "" "0" "" "" "g.39672852T>C" "" "likely pathogenic" "" "0000358050" "21" "70" "17" "37840962" "37840962" "subst" "0.000127978" "00081" "PGAP3_000011" "g.37840962G>A" "" "{PMID:Pagnamenta et al. 2017:28327575}" "" "" "" "Germline" "" "" "0" "" "" "g.39684709G>A" "" "likely pathogenic" "" "0000358051" "3" "70" "17" "37829352" "37829352" "subst" "0" "00081" "PGAP3_000020" "g.37829352T>C" "" "{PMID:Nampoothiri et al. 2017:28794914}" "" "" "" "Germline" "" "" "0" "" "" "g.39673099T>C" "" "likely pathogenic" "" "0000358052" "3" "70" "17" "37829352" "37829352" "subst" "0" "00081" "PGAP3_000020" "g.37829352T>C" "" "{PMID:Nampoothiri et al. 2017:28794914}" "" "" "" "Germline" "" "" "0" "" "" "g.39673099T>C" "" "likely pathogenic" "" "0000438275" "3" "90" "17" "37829353" "37829353" "subst" "0" "00081" "PGAP3_000008" "g.37829353G>A" "" "" "" "" "Mutation is heterozygous in the available parents. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane." "Germline" "" "" "0" "" "" "g.39673100G>A" "" "pathogenic" "" "0000438276" "3" "90" "17" "37829352" "37829352" "subst" "0" "00081" "PGAP3_000020" "g.37829352T>C" "" "" "" "" "The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane." "Germline" "" "" "0" "" "" "g.39673099T>C" "" "pathogenic" "" "0000438277" "3" "90" "17" "37829352" "37829352" "subst" "0" "00081" "PGAP3_000020" "g.37829352T>C" "" "" "" "" "Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane." "Germline" "" "" "0" "" "" "g.39673099T>C" "" "pathogenic" "" "0000438278" "3" "90" "17" "37829352" "37829352" "subst" "0" "00081" "PGAP3_000020" "g.37829352T>C" "" "" "" "" "Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane." "Germline" "" "" "0" "" "" "g.39673099T>C" "" "pathogenic" "" "0000438279" "3" "90" "17" "37829352" "37829352" "subst" "0" "00081" "PGAP3_000020" "g.37829352T>C" "" "" "" "" "Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane." "Germline" "" "" "0" "" "" "g.39673099T>C" "" "pathogenic" "" "0000438280" "3" "90" "17" "37829352" "37829352" "subst" "0" "00081" "PGAP3_000020" "g.37829352T>C" "" "" "" "" "Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane." "Germline" "" "" "0" "" "" "g.39673099T>C" "" "pathogenic" "" "0000438281" "3" "90" "17" "37829352" "37829352" "subst" "0" "00081" "PGAP3_000020" "g.37829352T>C" "" "" "" "" "Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane." "Germline" "" "" "0" "" "" "g.39673099T>C" "" "pathogenic" "" "0000438282" "3" "90" "17" "37829352" "37829352" "subst" "0" "00081" "PGAP3_000020" "g.37829352T>C" "" "" "" "" "Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane." "Germline" "" "" "0" "" "" "g.39673099T>C" "" "pathogenic" "" "0000438283" "3" "90" "17" "37829352" "37829352" "subst" "0" "00081" "PGAP3_000020" "g.37829352T>C" "" "" "" "" "Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane." "Germline" "" "" "0" "" "" "g.39673099T>C" "" "pathogenic" "" "0000438284" "3" "90" "17" "37840962" "37840962" "subst" "0.000127978" "00081" "PGAP3_000011" "g.37840962G>A" "" "" "" "" "Missense mutation. The wild type S107 residue is more hydrophobic and smaller than the mutant residue. This mutation will affect the hydrophobic interactions with the lipid membrane and protein function." "Germline" "" "" "0" "" "" "g.39684709G>A" "" "pathogenic" "" "0000438285" "3" "90" "17" "37840962" "37840962" "subst" "0.000127978" "00081" "PGAP3_000011" "g.37840962G>A" "" "" "" "" "Missense mutation. The wild type S107 residue is more hydrophobic and smaller than the mutant residue. This mutation will affect the hydrophobic interactions with the lipid membrane and protein function." "Germline" "" "" "0" "" "" "g.39684709G>A" "" "pathogenic" "" "0000438286" "3" "90" "17" "37829353" "37829353" "subst" "0" "00081" "PGAP3_000008" "g.37829353G>A" "" "" "" "" "Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane." "Germline" "" "" "0" "" "" "g.39673100G>A" "" "pathogenic" "" "0000438287" "3" "90" "17" "37829353" "37829353" "subst" "0" "00081" "PGAP3_000008" "g.37829353G>A" "" "" "" "" "Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane." "Germline" "" "" "0" "" "" "g.39673100G>A" "" "pathogenic" "" "0000438288" "3" "90" "17" "37829353" "37829353" "subst" "0" "00081" "PGAP3_000008" "g.37829353G>A" "" "" "" "" "Missense mutation. The wild-type histidine residue (H284) is located in the transmembrane domain. The mutation is expected to lead bumps in the protein thus affecting the contacts with the lipid-membrane." "Germline" "" "" "0" "" "" "g.39673100G>A" "" "pathogenic" "" "0000438289" "3" "90" "17" "37830296" "37830296" "subst" "0" "00081" "PGAP3_000021" "g.37830296G>T" "" "" "" "" "Parents were heterozygous carriers for p.Tyr169Ter. This nonsense alteration was predicted to cause a truncated protein with lacking functionally structural 5 transmembrane domains (TMD)" "Germline" "" "" "0" "" "" "g.39674043G>T" "" "pathogenic" "" "0000438290" "3" "90" "17" "37830296" "37830296" "subst" "0" "00081" "PGAP3_000021" "g.37830296G>T" "" "" "" "" "Parents were heterozygous carriers for p.Tyr169Ter. This nonsense alteration was predicted to cause a truncated protein with lacking functionally structural 5 transmembrane domains (TMD)" "Germline" "" "" "0" "" "" "g.39674043G>T" "" "pathogenic" "" "0000438291" "0" "90" "17" "37829352" "37829352" "subst" "0" "00081" "PGAP3_000020" "g.37829352T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.39673099T>C" "" "pathogenic" "" "0000438292" "0" "90" "17" "37829352" "37829352" "subst" "0" "00081" "PGAP3_000020" "g.37829352T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.39673099T>C" "" "pathogenic" "" "0000438294" "3" "90" "17" "37840968" "37840968" "subst" "0" "00081" "PGAP3_000022" "g.37840968G>T" "" "" "" "" "Missense variant. This mutation was predicted as pathogenic by the in silico software: SIFT=0, PolyPhen2=1, and MutationTaster=disease causing. This new mutation was inherited from both unaffected carrier parents." "Germline" "" "" "0" "" "" "g.39684715G>T" "" "pathogenic" "" "0000439020" "0" "77" "17" "37829376" "37829376" "subst" "5.62775E-5" "00081" "PGAP3_000006" "g.37829376G>A" "" "{PMID:Knaus et al. 2018:29310717}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.39673123G>A" "" "likely pathogenic" "" "0000561241" "0" "30" "17" "37822438" "37822438" "subst" "0" "02327" "TCAP_000027" "g.37822438G>T" "" "" "" "TCAP(NM_003673.3):c.*76G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39666185G>T" "" "likely benign" "" "0000561242" "0" "10" "17" "37822440" "37822440" "subst" "0" "02327" "PGAP3_000023" "g.37822440T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39666187T>G" "" "benign" "" "0000561243" "0" "30" "17" "37822561" "37822561" "subst" "0" "02327" "TCAP_000015" "g.37822561G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39666308G>T" "" "likely benign" "" "0000561244" "0" "30" "17" "37822739" "37822739" "subst" "0" "02327" "TCAP_000021" "g.37822739G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39666486G>C" "" "likely benign" "" "0000561245" "0" "10" "17" "37822757" "37822757" "subst" "0" "02327" "PGAP3_000024" "g.37822757C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39666504C>A" "" "benign" "" "0000561247" "0" "30" "17" "37825998" "37825998" "subst" "0.00251154" "01804" "PGAP3_000026" "g.37825998C>T" "" "" "" "PNMT(NM_002686.4):c.319C>T (p.(Arg107Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39669745C>T" "" "likely benign" "" "0000561248" "0" "50" "17" "37830315" "37830316" "ins" "0" "02327" "PGAP3_000027" "g.37830315_37830316insTACTCTG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39674062_39674063insTACTCTG" "" "VUS" "" "0000561250" "0" "30" "17" "37866133" "37866133" "subst" "0" "01943" "ERBB2_000007" "g.37866133C>G" "" "" "" "ERBB2(NM_001289936.1):c.597C>G (p.S199R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39709880C>G" "" "likely benign" "" "0000561251" "0" "30" "17" "37871547" "37871547" "subst" "0.00380863" "01943" "ERBB2_000008" "g.37871547C>A" "" "" "" "ERBB2(NM_001289936.1):c.1112C>A (p.A371D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39715294C>A" "" "likely benign" "" "0000561252" "0" "50" "17" "37871714" "37871714" "subst" "0" "01943" "ERBB2_000009" "g.37871714C>T" "" "" "" "ERBB2(NM_001289936.1):c.1193C>T (p.S398L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39715461C>T" "" "VUS" "" "0000561253" "0" "50" "17" "37872145" "37872145" "subst" "0.000777039" "01943" "ERBB2_000010" "g.37872145C>T" "" "" "" "ERBB2(NM_001289936.1):c.1421C>T (p.P474L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39715892C>T" "" "VUS" "" "0000561255" "0" "50" "17" "37884223" "37884223" "del" "0" "01943" "ERBB2_000012" "g.37884223del" "" "" "" "ERBB2(NM_001289936.1):c.3649delG (p.A1217Lfs*70)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39727970del" "" "VUS" "" "0000616495" "0" "30" "17" "37844168" "37844168" "subst" "0" "01943" "ERBB2_000014" "g.37844168G>A" "" "" "" "PGAP3(NM_033419.4):c.100C>T (p.L34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39687915G>A" "" "likely benign" "" "0000616496" "0" "30" "17" "37883141" "37883141" "subst" "0.000882465" "01943" "ERBB2_000015" "g.37883141G>A" "" "" "" "ERBB2(NM_001289936.1):c.2999G>A (p.G1000E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39726888G>A" "" "likely benign" "" "0000623659" "0" "90" "17" "37829798" "37829798" "subst" "0" "02325" "PGAP3_000028" "g.37829798A>C" "" "" "" "PGAP3(NM_033419.5):c.663T>G (p.Y221*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39673545A>C" "" "pathogenic" "" "0000623660" "0" "50" "17" "37842254" "37842254" "subst" "0.00035346" "01943" "ERBB2_000013" "g.37842254T>C" "" "" "" "PGAP3(NM_033419.4):c.200A>G (p.D67G), PGAP3(NM_033419.5):c.200A>G (p.(Asp67Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39686001T>C" "" "VUS" "" "0000680840" "0" "50" "17" "37844144" "37844144" "subst" "0.000428899" "01804" "ERBB2_000016" "g.37844144A>C" "" "" "" "PGAP3(NM_033419.3):c.124T>G (p.(Ser42Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692326" "0" "30" "17" "37883696" "37883696" "subst" "2.05788E-5" "01943" "ERBB2_000017" "g.37883696C>T" "" "" "" "ERBB2(NM_001289936.1):c.3263C>T (p.T1088I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726325" "0" "30" "17" "37830860" "37830860" "subst" "0.000168477" "01943" "PGAP3_000029" "g.37830860G>A" "" "" "" "PGAP3(NM_033419.4):c.495+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730044" "3" "90" "17" "37829353" "37829353" "subst" "0" "00000" "PGAP3_000008" "g.37829353G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_033419.3:c.850C>T:p.(His284Tyr)" "" "Germline" "" "" "0" "" "" "g.39673100G>A" "" "pathogenic (recessive)" "" "0000730045" "3" "90" "17" "37829353" "37829353" "subst" "0" "00000" "PGAP3_000008" "g.37829353G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_033419.3:c.850C>T:p.(His284Tyr)" "" "Germline" "" "" "0" "" "" "g.39673100G>A" "" "pathogenic (recessive)" "" "0000730046" "3" "90" "17" "37829353" "37829353" "subst" "0" "00000" "PGAP3_000008" "g.37829353G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_033419.3:c.850C>T:p.(His284Tyr)" "" "Germline" "" "" "0" "" "" "g.39673100G>A" "" "pathogenic (recessive)" "" "0000730047" "3" "90" "17" "37829353" "37829353" "subst" "0" "00000" "PGAP3_000008" "g.37829353G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_033419.3:c.850C>T:p.(His284Tyr)" "" "Germline" "" "" "0" "" "" "g.39673100G>A" "" "pathogenic (recessive)" "" "0000730048" "3" "90" "17" "37829353" "37829353" "subst" "0" "00000" "PGAP3_000008" "g.37829353G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_033419.3:c.850C>T:p.(His284Tyr)" "" "Germline" "" "" "0" "" "" "g.39673100G>A" "" "pathogenic (recessive)" "" "0000817916" "3" "90" "17" "37840849" "37840849" "subst" "0" "00006" "PGAP3_000030" "g.37840849C>T" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.39684596C>T" "" "pathogenic (recessive)" "ACMG" "0000854856" "0" "30" "17" "37829392" "37829392" "subst" "0.000389147" "01943" "PGAP3_000031" "g.37829392G>T" "" "" "" "PGAP3(NM_033419.4):c.811C>A (p.L271M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000904824" "3" "70" "17" "37829913" "37829913" "subst" "6.98697E-5" "00006" "PGAP3_000012" "g.37829913C>T" "" "{PMID:Al-Kasbi 2022:36344539}" "" "" "" "Germline" "" "rs200598755" "0" "" "" "g.39673660C>T" "VCV000224645.3" "likely pathogenic (recessive)" "" "0000939884" "1" "90" "17" "37829358" "37829358" "subst" "0" "00006" "PGAP3_000016" "g.37829358T>C" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.39673105T>C" "" "pathogenic (recessive)" "" "0000939914" "2" "90" "17" "37841002" "37841002" "del" "0" "00006" "PGAP3_000032" "g.37841002del" "" "{PMID:Nambot 2018:29095811}" "" "NM_033419.3:c.280del" "" "Germline" "" "" "0" "" "" "g.39684749del" "" "pathogenic (recessive)" "" "0000968846" "0" "50" "17" "37881616" "37881616" "subst" "1.21854E-5" "02327" "ERBB2_000018" "g.37881616C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982453" "0" "70" "17" "37829376" "37829376" "subst" "5.62775E-5" "01804" "PGAP3_000006" "g.37829376G>A" "" "" "" "PGAP3(NM_033419.5):c.827C>T (p.(Pro276Leu), p.P276L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982454" "0" "90" "17" "37829766" "37829766" "subst" "1.62571E-5" "01804" "PGAP3_000033" "g.37829766C>T" "" "" "" "PGAP3(NM_033419.5):c.694+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982455" "0" "70" "17" "37830916" "37830916" "subst" "0" "01804" "PGAP3_000034" "g.37830916C>T" "" "" "" "PGAP3(NM_033419.5):c.449G>A (p.(Trp150*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001003166" "0" "50" "17" "37828497" "37828497" "subst" "0" "01804" "PGAP3_000015" "g.37828497G>A" "" "" "" "PGAP3(NM_033419.3):c.*559C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003167" "0" "70" "17" "37829822" "37829822" "subst" "4.06131E-6" "01804" "PGAP3_000035" "g.37829822G>C" "" "" "" "PGAP3(NM_033419.3):c.639C>G (p.(Tyr213*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001041803" "0" "50" "17" "37842254" "37842254" "subst" "0.00035346" "01804" "ERBB2_000013" "g.37842254T>C" "" "" "" "PGAP3(NM_033419.4):c.200A>G (p.D67G), PGAP3(NM_033419.5):c.200A>G (p.(Asp67Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046620" "0" "10" "17" "37884176" "37884176" "subst" "0.00583528" "02327" "ERBB2_000005" "g.37884176C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001058986" "0" "70" "17" "37829352" "37829352" "subst" "0" "00006" "PGAP3_000020" "g.37829352T>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.39673099T>C" "" "likely pathogenic" "" "0001058987" "0" "70" "17" "37829352" "37829352" "subst" "0" "00006" "PGAP3_000020" "g.37829352T>C" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.39673099T>C" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PGAP3 ## Count = 102 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000048344" "00016028" "90" "275" "0" "275" "0" "c.275G>A" "r.(?)" "p.(Gly92Asp)" "" "0000048345" "00016028" "90" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Asp305Gly)" "8" "0000048346" "00016028" "90" "439" "0" "439" "0" "c.439dup" "r.(?)" "p.(Leu147Profs*16)" "" "0000048348" "00016028" "90" "314" "0" "314" "0" "c.314C>G" "r.(?)" "p.(Pro105Arg)" "" "0000130156" "00016028" "70" "924" "0" "924" "0" "c.924C>A" "r.(?)" "p.(Tyr308*)" "" "0000267860" "00016028" "10" "-24448" "0" "-24448" "0" "c.-24448G>A" "r.(?)" "p.(=)" "" "0000267861" "00016028" "10" "-39770" "0" "-39770" "0" "c.-39770G>C" "r.(?)" "p.(=)" "" "0000276225" "00016028" "30" "-37694" "0" "-37694" "0" "c.-37694A>C" "r.(?)" "p.(=)" "" "0000296932" "00016028" "50" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Pro276Leu)" "" "0000314452" "00016028" "30" "7581" "0" "7581" "0" "c.*6618C>A" "r.(=)" "p.(=)" "" "0000325372" "00016028" "30" "404" "0" "404" "0" "c.404T>C" "r.(?)" "p.(Met135Thr)" "" "0000346441" "00016028" "50" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(His284Tyr)" "" "0000349737" "00016028" "50" "715" "0" "717" "0" "c.715_717del" "r.(?)" "p.(Trp239del)" "" "0000358012" "00016028" "70" "320" "0" "320" "0" "c.320C>T" "r.(?)" "p.(Ser107Leu)" "" "0000358013" "00016028" "70" "558" "-10" "558" "-10" "c.558-10G>A" "r.(=)" "p.(=)" "" "0000358014" "00016028" "70" "402" "0" "402" "0" "c.402dup" "r.(?)" "p.(Met135Hisfs*28)" "" "0000358015" "00016028" "70" "558" "-10" "558" "-10" "c.558-10G>A" "r.(=)" "p.(=)" "" "0000358016" "00016028" "70" "861" "0" "861" "0" "c.861G>T" "r.(?)" "p.(Trp287Cys)" "" "0000358017" "00016028" "70" "1522" "0" "1522" "0" "c.*559C>T" "r.(=)" "p.(=)" "" "0000358018" "00016028" "70" "861" "0" "861" "0" "c.861G>T" "r.(?)" "p.(Trp287Cys)" "" "0000358019" "00016028" "70" "1522" "0" "1522" "0" "c.*559C>T" "r.(=)" "p.(=)" "" "0000358030" "00016028" "70" "320" "0" "320" "0" "c.320C>T" "r.(?)" "p.(Ser107Leu)" "" "0000358031" "00016028" "70" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Asp305Gly)" "" "0000358032" "00016028" "70" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Asp282Gly)" "" "0000358033" "00016028" "70" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Asp282Gly)" "" "0000358034" "00016028" "70" "511" "0" "511" "0" "c.511T>C" "r.(?)" "p.(Cys171Arg)" "" "0000358035" "00016028" "70" "842" "0" "842" "0" "c.842T>C" "r.(?)" "p.(Leu281Pro)" "" "0000358037" "00016028" "70" "402" "0" "402" "0" "c.402dup" "r.(?)" "p.(Met135Hisfs*28)" "" "0000358038" "00016028" "70" "402" "0" "402" "0" "c.402dup" "r.(?)" "p.(Met135Hisfs*28)" "" "0000358039" "00016028" "70" "402" "0" "402" "0" "c.402dup" "r.(?)" "p.(Met135Hisfs*28)" "" "0000358040" "00016028" "70" "402" "0" "402" "0" "c.402dup" "r.(?)" "p.(Met135Hisfs*28)" "" "0000358041" "00016028" "70" "817" "0" "820" "0" "c.817_820del" "r.(?)" "p.(Asp273Serfs*37)" "" "0000358042" "00016028" "70" "402" "0" "402" "0" "c.402dup" "r.(?)" "p.(Met135Hisfs*28)" "" "0000358043" "00016028" "70" "402" "0" "402" "0" "c.402dup" "r.(?)" "p.(Met135Hisfs*28)" "" "0000358044" "00016028" "70" "402" "0" "402" "0" "c.402dup" "r.(?)" "p.(Met135Hisfs*28)" "" "0000358045" "00016028" "70" "402" "0" "402" "0" "c.402dup" "r.(?)" "p.(Met135Hisfs*28)" "" "0000358046" "00016028" "70" "402" "0" "402" "0" "c.402dup" "r.(?)" "p.(Met135Hisfs*28)" "" "0000358047" "00016028" "70" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Asp305Gly)" "" "0000358048" "00016028" "70" "320" "0" "320" "0" "c.320C>T" "r.(?)" "p.(Ser107Leu)" "" "0000358049" "00016028" "70" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Asp305Gly)" "" "0000358050" "00016028" "70" "320" "0" "320" "0" "c.320C>T" "r.(?)" "p.(Ser107Leu)" "" "0000358051" "00016028" "70" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "7" "0000358052" "00016028" "70" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "7" "0000438275" "00016028" "90" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(His284Tyr)" "" "0000438276" "00016028" "90" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "" "0000438277" "00016028" "90" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "" "0000438278" "00016028" "90" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "" "0000438279" "00016028" "90" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "" "0000438280" "00016028" "90" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "" "0000438281" "00016028" "90" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "7" "0000438282" "00016028" "90" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "7" "0000438283" "00016028" "90" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "7" "0000438284" "00016028" "90" "320" "0" "320" "0" "c.320C>T" "r.(?)" "p.(Ser107Leu)" "2" "0000438285" "00016028" "90" "320" "0" "320" "0" "c.320C>T" "r.(?)" "p.(Ser107Leu)" "2" "0000438286" "00016028" "90" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(His284Tyr)" "7" "0000438287" "00016028" "90" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(His284Tyr)" "7" "0000438288" "00016028" "90" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(His284Tyr)" "7" "0000438289" "00016028" "90" "507" "0" "507" "0" "c.507C>A" "r.(?)" "p.(Tyr169*)" "5" "0000438290" "00016028" "90" "507" "0" "507" "0" "c.507C>A" "r.(?)" "p.(Tyr169*)" "5" "0000438291" "00016028" "90" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "" "0000438292" "00016028" "90" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "" "0000438294" "00016028" "90" "314" "0" "314" "0" "c.314C>A" "r.(?)" "p.(Pro105Gln)" "3" "0000439020" "00016028" "77" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Pro276Leu)" "" "0000561241" "00016028" "30" "7581" "0" "7581" "0" "c.*6618C>A" "r.(=)" "p.(=)" "" "0000561242" "00016028" "10" "7579" "0" "7579" "0" "c.*6616A>C" "r.(=)" "p.(=)" "" "0000561243" "00016028" "30" "7458" "0" "7458" "0" "c.*6495C>A" "r.(=)" "p.(=)" "" "0000561244" "00016028" "30" "7280" "0" "7280" "0" "c.*6317C>G" "r.(=)" "p.(=)" "" "0000561245" "00016028" "10" "7262" "0" "7262" "0" "c.*6299G>T" "r.(=)" "p.(=)" "" "0000561247" "00016028" "30" "4021" "0" "4021" "0" "c.*3058G>A" "r.(=)" "p.(=)" "" "0000561248" "00016028" "50" "496" "-9" "496" "-8" "c.496-9_496-8insCAGAGTA" "r.(=)" "p.(=)" "" "0000561250" "00016028" "30" "-21866" "0" "-21866" "0" "c.-21866G>C" "r.(?)" "p.(=)" "" "0000561251" "00016028" "30" "-27280" "0" "-27280" "0" "c.-27280G>T" "r.(?)" "p.(=)" "" "0000561252" "00016028" "50" "-27447" "0" "-27447" "0" "c.-27447G>A" "r.(?)" "p.(=)" "" "0000561253" "00016028" "50" "-27878" "0" "-27878" "0" "c.-27878G>A" "r.(?)" "p.(=)" "" "0000561255" "00016028" "50" "-39951" "0" "-39951" "0" "c.-39951del" "r.(?)" "p.(=)" "" "0000616495" "00016028" "30" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Leu34=)" "" "0000616496" "00016028" "30" "-38874" "0" "-38874" "0" "c.-38874C>T" "r.(?)" "p.(=)" "" "0000623659" "00016028" "90" "663" "0" "663" "0" "c.663T>G" "r.(?)" "p.(Tyr221Ter)" "" "0000623660" "00016028" "50" "200" "0" "200" "0" "c.200A>G" "r.(?)" "p.(Asp67Gly)" "" "0000680840" "00016028" "50" "124" "0" "124" "0" "c.124T>G" "r.(?)" "p.(Ser42Ala)" "" "0000692326" "00016028" "30" "-39429" "0" "-39429" "0" "c.-39429G>A" "r.(?)" "p.(=)" "" "0000726325" "00016028" "30" "495" "10" "495" "10" "c.495+10C>T" "r.(=)" "p.(=)" "" "0000730044" "00016028" "90" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(His284Tyr)" "" "0000730045" "00016028" "90" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(His284Tyr)" "" "0000730046" "00016028" "90" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(His284Tyr)" "" "0000730047" "00016028" "90" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(His284Tyr)" "" "0000730048" "00016028" "90" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(His284Tyr)" "" "0000817916" "00016028" "90" "432" "1" "432" "1" "c.432+1G>A" "r.spl" "p.?" "" "0000854856" "00016028" "30" "811" "0" "811" "0" "c.811C>A" "r.(?)" "p.(Leu271Met)" "" "0000904824" "00016028" "70" "558" "-10" "558" "-10" "c.558-10G>A" "r.spl?" "p.?" "" "0000939884" "00016028" "90" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Asp282Gly)" "7" "0000939914" "00016028" "90" "280" "0" "280" "0" "c.280del" "r.(?)" "p.(Trp94GlyfsTer27)" "3" "0000968846" "00016028" "50" "-37349" "0" "-37349" "0" "c.-37349G>A" "r.(?)" "p.(=)" "" "0000982453" "00016028" "70" "827" "0" "827" "0" "c.827C>T" "r.(?)" "p.(Pro276Leu)" "" "0000982454" "00016028" "90" "694" "1" "694" "1" "c.694+1G>A" "r.spl?" "p.?" "" "0000982455" "00016028" "70" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Trp150*)" "" "0001003166" "00016028" "50" "1522" "0" "1522" "0" "c.*559C>T" "r.(=)" "p.(=)" "" "0001003167" "00016028" "70" "639" "0" "639" "0" "c.639C>G" "r.(?)" "p.(Tyr213*)" "" "0001041803" "00016028" "50" "200" "0" "200" "0" "c.200A>G" "r.(?)" "p.(Asp67Gly)" "" "0001046620" "00016028" "10" "-39909" "0" "-39909" "0" "c.-39909G>T" "r.(?)" "p.(=)" "" "0001058986" "00016028" "70" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "" "0001058987" "00016028" "70" "851" "0" "851" "0" "c.851A>G" "r.(?)" "p.(His284Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 65 "{{screeningid}}" "{{variantid}}" "0000025464" "0000048344" "0000025465" "0000048345" "0000025465" "0000048346" "0000025466" "0000048348" "0000081070" "0000130156" "0000156117" "0000358012" "0000156117" "0000358013" "0000156118" "0000358014" "0000156118" "0000358015" "0000156119" "0000358016" "0000156119" "0000358017" "0000156120" "0000358018" "0000156120" "0000358019" "0000156131" "0000358030" "0000156131" "0000358031" "0000156132" "0000358032" "0000156133" "0000358033" "0000156134" "0000358034" "0000156134" "0000358035" "0000156135" "0000358037" "0000156136" "0000358038" "0000156137" "0000358039" "0000156138" "0000358040" "0000156139" "0000358041" "0000156140" "0000358042" "0000156141" "0000358043" "0000156142" "0000358044" "0000156143" "0000358045" "0000156144" "0000358046" "0000156147" "0000358047" "0000156147" "0000358048" "0000156148" "0000358049" "0000156148" "0000358050" "0000156149" "0000358051" "0000156150" "0000358052" "0000208423" "0000438275" "0000208424" "0000438276" "0000208425" "0000438277" "0000208426" "0000438278" "0000208427" "0000438279" "0000208428" "0000438280" "0000208429" "0000438281" "0000208430" "0000438282" "0000208431" "0000438283" "0000208432" "0000438284" "0000208433" "0000438285" "0000208434" "0000438286" "0000208435" "0000438287" "0000208436" "0000438288" "0000208437" "0000438289" "0000208438" "0000438290" "0000208439" "0000438291" "0000208440" "0000438292" "0000208442" "0000438294" "0000332762" "0000730044" "0000332763" "0000730045" "0000332764" "0000730046" "0000332765" "0000730047" "0000332766" "0000730048" "0000389123" "0000817916" "0000427464" "0000904824" "0000441942" "0000939884" "0000441942" "0000939914" "0000470864" "0001058986" "0000470865" "0001058987"