### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM147) # 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}}" "TMEM147" "transmembrane protein 147" "19" "q13.12" "unknown" "NC_000019.9" "UD_136094689305" "" "https://www.LOVD.nl/TMEM147" "" "1" "30414" "10430" "613585" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/TMEM147_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-09-13 13:41:17" "00000" "2025-05-05 21:14:00" ## 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}}" "00021385" "TMEM147" "transcript variant 1" "002" "NM_032635.3" "" "NP_116024.1" "" "" "" "-140" "755" "675" "36036502" "36038429" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "07058" "NEDFLPH" "neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-Pelger-Huet anomaly" "AR" "620075" "" "" "" "00006" "2023-12-24 13:43:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TMEM147" "00139" "TMEM147" "07058" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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}}" "00431360" "" "" "" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam1Ind1" "00431361" "" "" "" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam2Ind2" "00431362" "" "" "" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "France" "" "0" "" "" "" "Fam3Ind3" "00431363" "" "" "" "2" "" "04381" "{PMID:Thomas 2022:36044892}" "4-generation family, affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Egypt" "" "0" "" "" "" "Fam4Ind4" "00431364" "" "" "00431363" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "brother" "M" "yes" "Egypt" "" "0" "" "" "" "Fam4Ind5" "00431365" "" "" "" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Egypt" "" "0" "" "" "" "Fam5Ind6" "00431366" "" "" "" "4" "" "04381" "{PMID:Thomas 2022:36044892}" "5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Egypt" "" "0" "" "" "" "Fam6Ind7" "00431367" "" "" "00431366" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "brother" "M" "yes" "Egypt" "" "0" "" "" "" "Fam6Ind8" "00431368" "" "" "00431366" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "cousin" "F" "yes" "Egypt" "" "0" "" "" "" "Fam6Ind9" "00431369" "" "" "00431366" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "cousin" "M" "yes" "Egypt" "" "0" "" "" "" "Fam6Ind10" "00431370" "" "" "" "2" "" "04381" "{PMID:Thomas 2022:36044892}" "4-generation family, affected brothers (eldest deceased), unaffected heterozygous carrier parents/relatives" "M" "yes" "Egypt" "" "0" "" "" "" "Fam7Ind11" "00431371" "" "" "" "3" "" "04381" "{PMID:Thomas 2022:36044892}" "6-generation family, affected brother/2 sisters, unaffected heterozygous carrier parents/relatives" "M" "yes" "" "" "0" "" "" "" "Fam8Ind12" "00431372" "" "" "00431371" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "sister" "F" "yes" "" "" "0" "" "" "" "Fam8Ind13" "00431373" "" "" "00431371" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "sister" "F" "yes" "" "" "0" "" "" "" "Fam8Ind14" "00431374" "" "" "" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Fam9Ind15" "00431375" "" "" "" "2" "" "04381" "{PMID:Thomas 2022:36044892}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F" "yes" "United States" "" "0" "" "" "" "Fam10Ind16" "00431376" "" "" "00431375" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "brother" "M" "yes" "United States" "" "0" "" "" "" "Fam10Ind17" "00431377" "" "" "" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "France;Spain" "" "0" "" "" "" "Fam11Ind18" "00431378" "" "" "" "2" "" "04381" "{PMID:Thomas 2022:36044892}" "2-generation family, affected brother/sister (deceased), unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Fam12Ind19" "00431379" "" "" "" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Fam13Ind20" "00431380" "" "" "" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Fam14Ind21" "00431381" "" "" "" "2" "" "04381" "{PMID:Thomas 2022:36044892}" "5-generation family, affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "" "" "0" "" "" "" "Fam15Ind22" "00431382" "" "" "00431381" "1" "" "04381" "{PMID:Thomas 2022:36044892}" "brother" "M" "yes" "" "" "0" "" "" "" "Fam15Ind23" "00444515" "" "" "" "1" "" "00006" "{PMID:Riquin 2023:37495270}" "patient" "F" "" "France" "" "0" "" "" "" "Pat17" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00431360" "00139" "00431361" "00139" "00431362" "00139" "00431363" "00139" "00431364" "00139" "00431365" "00139" "00431366" "00139" "00431367" "00139" "00431368" "00139" "00431369" "00139" "00431370" "00139" "00431371" "00139" "00431372" "00139" "00431373" "00139" "00431374" "00139" "00431375" "00139" "00431376" "00139" "00431377" "00139" "00431378" "00139" "00431379" "00139" "00431380" "00139" "00431381" "00139" "00431382" "00139" "00444515" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 05611, 07058 ## Count = 24 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000321954" "00139" "00431360" "04381" "Familial, autosomal recessive" "16y" "birth weight -1.12, length +0.35, OFC -1.23; weight -1.5, height +2.25, OFC +1.5; motor delay (HP:0001270); 2y-walk; intellectual disability (HP:0001249); language delay (HP:0000750), single words; outbursts of anger, hyperactivity, self-injury; synkinesis with mirror movements of the hands (childhood), hypotonia; coarse facies, thick curly hair, hypertelorism, low-set ears, epicanthus large mouth, thick lower lip, sparse eyebrows, broad depressed nasal root; kyphosis, fifth finger bilateral clinodactyly, flat feet, valgus feet transverse palmar crease, 5y6m-pubic hair; MRI brain normal" "" "" "" "" "" "" "" "" "intellectual disability" "0000321955" "00139" "00431361" "04381" "Familial, autosomal recessive" "8y" "weight -0.69, height -0.5; motor delay (HP:0001270); 5y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), no speech; aggressivity, frustration intolerance self- injury; no neurological features; coarse facies, thin upper lip, epicanthus synophrys; scoliosis, 5th finger clinodactyly, transverse palmar crease; MRI brain normal" "" "" "" "" "" "" "" "" "intellectual disability" "0000321956" "00139" "00431362" "04381" "Familial, autosomal recessive" "2y" "birth weight -6, length -6, OFC -5; motor delay (HP:0001270); not walking; language delay (HP:0000750), babbling; no behavioral problems; general hypotonia; broad depressed nasal root, synophrys, epicanthus, tented mouth; transverse palmar crease; MRI brain normal" "" "" "" "" "" "" "" "" "intellectual disability" "0000321957" "00139" "00431363" "04381" "Familial, autosomal recessive" "13y" "birth weight -0.98, length -1, OFC -1.7; weight -1.7, height +1.3, OFC +2.4; motor delay (HP:0001270); 4y-walk; intellectual disability IQ 50; language delay (HP:0000750), short sentences; repetitive movements, outbursts of anger, hyperactivity; no neurological features; prominent forehead, broad nasal root, flat nasal tip, large tented mouth, long philtrum low set ears; MRI brain thin corpus callosum" "" "" "" "" "" "" "" "" "intellectual disability" "0000321958" "00139" "00431364" "04381" "Familial, autosomal recessive" "4y3m" "birth weight -0.5, length +0.3, OFC +05; weight -2.1, height +1, OFC -1.2; motor delay (HP:0001270); not walking; intellectual disability IQ 45; language delay (HP:0000750), no speech; outbursts of anger, hyperactivity, anxiety; no neurological features; prominent forehead, hypertelorism, down-slanting palpebral fissures, depressed broad nasal root, long philtrum, thin upper lip, everted lower lip, low set ears; MRI brain thin corpus callosum, myelination delay" "" "" "" "" "" "" "" "" "intellectual disability" "0000321959" "00139" "00431365" "04381" "Familial, autosomal recessive" "6y6m" "birth weight -0.5, length -0.08, OFC -1.11; weight -1, height -1, OFC -1.5; motor delay (HP:0001270); 3y-walk; intellectual disability IQ 53; language delay (HP:0000750), single words; outbursts of anger, hyperactivity, hair-eating; no neurological features; coarse facies, elongated face, sparse hair, prominent forehead, depressed nasal root, down- slanting palpebral fissures, long philtrum, tented big mouth, low set ears; MRI brain thin corpus callosum, enlarged lateral ventricles, periventricular white matter T2 hyperintensities" "" "" "" "" "" "" "" "" "intellectual disability" "0000321960" "00139" "00431366" "04381" "Familial, autosomal recessive" "9y1m" "birth weight -4, length -1.8, OFC +0.1; weight -0.8, height -1.5, OFC -2.3; motor delay (HP:0001270); 4y-walk; intellectual disability IQ 48; language delay (HP:0000750), single words; outbursts of anger, hyperactivity; no neurological features; coarse facies, prominent forehead, sparse eyebrows, prominent nasal root, triangular prominent nose, long smooth philtrum, thin upper lip, low set large ears; MRI brain thin corpus callosum, mild prominent verminan folia," "" "" "" "" "" "" "" "" "intellectual disability" "0000321961" "00139" "00431367" "04381" "Familial, autosomal recessive" "2y11m" "birth weight -4.3, length -1, OFC -0.89; weight -1.7, height -1.8, OFC -1.6; motor delay (HP:0001270); not walking; intellectual disability IQ 35-40; language delay (HP:0000750), no speech; outbursts of anger, anxiety; no neurological features; coarse facies, prominent forehead, down- slanting palpebral fissures, synophrys depressed nasal root, long smooth philtrum, tented mouth, low set ears; MRI brain thin corpus callosum, mild prominent vermian folia" "" "" "" "" "" "" "" "" "intellectual disability" "0000321962" "00139" "00431368" "04381" "Familial, autosomal recessive" "6y" "birth weight -3.2, length -0.88, OFC -1.4; weight -1.2, height -2.3, OFC -1; motor delay (HP:0001270); 5y-walk; intellectual disability IQ 45; language delay (HP:0000750), single words; outbursts of anger; no neurological features; coarse facies, prominent forehead depressed nasal root, broad nasal tip, long smooth philtrum, big mouth, low set ears; MRI brain thin corpus callosum, enlarged lateral ventricles, prominent vermian folia" "" "" "" "" "" "" "" "" "intellectual disability" "0000321963" "00139" "00431369" "04381" "Familial, autosomal recessive" "3y2m" "birth weight -4, length -1.3, OFC -1.7; weight -1.6, height -1.6, OFC -1.6; motor delay (HP:0001270); not walking; intellectual disability IQ 35; language delay (HP:0000750), no speech; outbursts of anger, anxiety; bilateral severe sensorineural hearing loss; coarse facies, prominent forehead, curly hair, down- slanting palpebral fissures, depressed nasal root, long smooth philtrum, tented mouth, low set ears; patent foramen ovale; MRI brain thin corpus callosum, enlarged lateral ventricles, white matter hyperintensities, prominent cerebellar folia" "" "" "" "" "" "" "" "" "intellectual disability" "0000321964" "00139" "00431370" "04381" "Familial, autosomal recessive" "2y6m" "birth weight -1.9, length -1.2, OFC -1.5; weight -1.8, height -1, OFC -4.6; motor delay (HP:0001270); not walking; intellectual disability IQ 20-25; language delay (HP:0000750), no speech; outbursts of anger, excessive crying; tonic seizures; prominent forehead, sparse eyebrows, depressed nasal root, broad nose tip, smooth philtrum, tented mouth, low set ears; MRI brain thin corpus callosum, hypoplastic lower vermis" "" "" "" "" "" "" "" "" "intellectual disability" "0000321965" "00139" "00431371" "04381" "Familial, autosomal recessive" "14y" "birth weight/length/OFC normal; weight/height/OFC normal; motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), no speech; no behavioral problems; no neurological features; coarse facies, synophrys, epicanthus, long smooth philtrum, elongated face; elbows arthrogryposis" "" "" "" "" "" "" "" "" "intellectual disability" "0000321966" "00139" "00431372" "04381" "Familial, autosomal recessive" "8y" "birth weight/length/OFC normal; weight/height/OFC normal; motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; no behavioral problems; no neurological features; coarse facies, synophrys, epicanthus, broad nasal root, smooth philtrum, big mouth, thin upper lip; ichthyosis" "" "" "" "" "" "" "" "" "intellectual disability" "0000321967" "00139" "00431373" "04381" "Familial, autosomal recessive" "6y" "birth weight/length/OFC normal; weight/height/OFC normal; motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), no speech; no behavioral problems; no neurological features; coarse facies, synophrys, epicanthus, broad nasal root, smooth philtrum big mouth; ichthyosis" "" "" "" "" "" "" "" "" "intellectual disability" "0000321968" "00139" "00431374" "04381" "Familial, autosomal recessive" "3y" "weight -1.2, height 0, OFC -2.5; motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; no neurological features; marked epicantus, large ears, tented mouth, short philtrum inverted nasal tip; atrial septal defect, large patent ductus arteriosus; MRI brain normal" "" "" "" "" "" "" "" "" "intellectual disability" "0000321969" "00139" "00431375" "04381" "Familial, autosomal recessive" "8y" "birth weight/length/OFC normal; motor delay (HP:0001270); severe intellectual disability (HP:0001249); language delay (HP:0000750), short sentences; outbursts of anger; no neurological features; coarse facies, hypertelorism, sparse hair, synophyrs, full lips" "" "" "" "" "" "" "" "" "intellectual disability" "0000321970" "00139" "00431376" "04381" "Familial, autosomal recessive" "5y" "birth weight/length/OFC normal; weight -2, height -2; motor delay (HP:0001270); severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; outbursts of anger, self-injury; general hypotonia" "" "" "" "" "" "" "" "" "intellectual disability" "0000321971" "00139" "00431377" "04381" "Familial, autosomal recessive" "18y" "motor delay (HP:0001270); 3y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; anxiety, hyperactivity; no neurological features; long face, exophoria, prognathism, everted lower lip, anteverted floppy ears; kyphoscoliosis, pes planus, long and slender fingers and toes, late puberty; MRI brain posterior white matter hyperintensity" "" "" "" "" "" "" "" "" "intellectual disability" "0000321972" "00139" "00431378" "04381" "Familial, autosomal recessive" "2y" "birth weight -1.17, length -0.77, OFC -0.9; weight +1, height -1, OFC +1; motor delay (HP:0001270); 18m-walk; moderate intellectual disability (HP:0001249); language delay (HP:0000750), single words; no behavioral problems; no neurological features; coarse facies, prominent forehead epicanthus, thin upper lip; patent foramen ovale; MRI brain reduced white matter volume" "" "" "" "" "" "" "" "" "intellectual disability" "0000321973" "00139" "00431379" "04381" "Familial, autosomal recessive" "4y6m" "birth weight -1, length -0.8, OFC -1.7; weight -3, height -3, OFC -3; motor delay (HP:0001270); not walking; severe intellectual disability (HP:0001249); language delay (HP:0000750), single words; outbursts of anger, aggressivity; no neurological features; coarse facies, synophrys, marked epicanthus, flat nasal tip, long smooth philtrum big tented mouth, elongated face; MRI brain periventricular and occipital white matter T2 hyperintensities, myelination delay" "" "" "" "" "" "" "" "" "intellectual disability" "0000321974" "00139" "00431380" "04381" "Familial, autosomal recessive" "14m" "birth weight -1.17, length +1.5, OFC -1.8; weight -2, height -1, OFC +1; motor delay (HP:0001270); not walking; intellectual disability (HP:0001249); language delay (HP:0000750), babbling; no behavioral problems; no neurological features; coarse facies, prominent forehead, sparse eyebrows, epicanthus, depressed nasal root, long philtrum tented mouth; MRI brain normal" "" "" "" "" "" "" "" "" "intellectual disability" "0000321975" "00139" "00431381" "04381" "Familial, autosomal recessive" "6y" "birth weight -1, length -0.5, OFC +0.9; weight -2, height -2, OFC -4.6; motor delay (HP:0001270); not walking; intellectual disability intellectual disability IQ 35; language delay (HP:0000750), no speech; outburst of anger, autistic traits; tonic seizures; prominent forehead, depressed nasal root, broad nose tip, prominent nares, short philtrum, tented mouth, low set ears; MRI brain thin corpus callosum mild frontoparietal cortical atrophy, wide interhemispheric fissure, bilateral mild deep sylvian fissure, periventricular and occipital white matter T2 hyperintensitie" "" "" "" "" "" "" "" "" "intellectual disability" "0000321976" "00139" "00431382" "04381" "Familial, autosomal recessive" "1y" "birth weight -1.2, length -0.4, OFC +1; weight -1.7, height +0.2, OFC -2.1; motor delay (HP:0001270); not walking; no behavioral problems; no neurological features; prominent forehead, depressed nasal root, broad nose tip, prominent nares, long philtrum, tented mouth, low set ears; MRI brain thin corpus callosum, mild frontoparietal cortical atrophy, wide interhemispheric fissure, bilateral mild deep sylvian fissure, periventricular white matter T2 hyperintensities" "" "" "" "" "" "" "" "" "intellectual disability" "0000333768" "05611" "00444515" "00006" "Familial, autosomal recessive" "10y-20y" "Global developmental delay, behavior troubles, clinodactyly, enlarged cerebral ventricles" "" "" "" "" "" "" "" "" "neurodevelopmental disorders" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000432773" "00431360" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432774" "00431361" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432775" "00431362" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432776" "00431363" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432777" "00431364" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432778" "00431365" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432779" "00431366" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432780" "00431367" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432781" "00431368" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432782" "00431369" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432783" "00431370" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432784" "00431371" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432785" "00431372" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432786" "00431373" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432787" "00431374" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432788" "00431375" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432789" "00431376" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432790" "00431377" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432791" "00431378" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432792" "00431379" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432793" "00431380" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432794" "00431381" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432795" "00431382" "1" "04381" "00006" "2022-10-14 11:22:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446083" "00444515" "1" "00006" "00006" "2023-12-24 18:16:19" "" "" "SEQ-NG" "DNA" "" "WES, WGS trio" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 29 "{{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}}" "0000918381" "11" "90" "19" "36036812" "36036830" "del" "0" "04381" "TMEM147_000003" "g.36036812_36036830del" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35545910_35545928del" "" "pathogenic (recessive)" "" "0000918382" "11" "90" "19" "36036704" "36036704" "subst" "0" "04381" "TMEM147_000002" "g.36036704C>G" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35545802C>G" "" "pathogenic (recessive)" "" "0000918383" "3" "90" "19" "36037900" "36037900" "subst" "0" "04381" "TMEM147_000008" "g.36037900T>A" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35546998T>A" "" "pathogenic (recessive)" "" "0000918384" "3" "90" "19" "36037900" "36037900" "subst" "0" "04381" "TMEM147_000008" "g.36037900T>A" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35546998T>A" "" "pathogenic (recessive)" "" "0000918385" "3" "90" "19" "36037900" "36037900" "subst" "0" "04381" "TMEM147_000008" "g.36037900T>A" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35546998T>A" "" "pathogenic (recessive)" "" "0000918386" "3" "90" "19" "36037900" "36037900" "subst" "0" "04381" "TMEM147_000008" "g.36037900T>A" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35546998T>A" "" "pathogenic (recessive)" "" "0000918387" "3" "90" "19" "36037900" "36037900" "subst" "0" "04381" "TMEM147_000008" "g.36037900T>A" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35546998T>A" "" "pathogenic (recessive)" "" "0000918388" "3" "90" "19" "36037900" "36037900" "subst" "0" "04381" "TMEM147_000008" "g.36037900T>A" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35546998T>A" "" "pathogenic (recessive)" "" "0000918389" "3" "90" "19" "36037900" "36037900" "subst" "0" "04381" "TMEM147_000008" "g.36037900T>A" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35546998T>A" "" "pathogenic (recessive)" "" "0000918390" "3" "90" "19" "36037900" "36037900" "subst" "0" "04381" "TMEM147_000008" "g.36037900T>A" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35546998T>A" "" "pathogenic (recessive)" "" "0000918391" "3" "90" "19" "36037900" "36037900" "subst" "0" "04381" "TMEM147_000008" "g.36037900T>A" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35546998T>A" "" "pathogenic (recessive)" "" "0000918392" "3" "90" "19" "36037715" "36037715" "subst" "1.21853E-5" "04381" "TMEM147_000005" "g.36037715G>A" "" "{PMID:Thomas 2022:36044892}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.35546813G>A" "" "pathogenic (recessive)" "" "0000918393" "3" "90" "19" "36037715" "36037715" "subst" "1.21853E-5" "04381" "TMEM147_000005" "g.36037715G>A" "" "{PMID:Thomas 2022:36044892}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.35546813G>A" "" "pathogenic (recessive)" "" "0000918394" "3" "90" "19" "36037715" "36037715" "subst" "1.21853E-5" "04381" "TMEM147_000005" "g.36037715G>A" "" "{PMID:Thomas 2022:36044892}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.35546813G>A" "" "pathogenic (recessive)" "" "0000918395" "3" "90" "19" "36037846" "36037846" "subst" "1.62452E-5" "04381" "TMEM147_000006" "g.36037846G>T" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35546944G>T" "" "pathogenic (recessive)" "" "0000918396" "3" "90" "19" "36036660" "36036660" "subst" "5.35239E-5" "04381" "TMEM147_000001" "g.36036660G>C" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35545758G>C" "" "pathogenic (recessive)" "" "0000918397" "3" "90" "19" "36036660" "36036660" "subst" "5.35239E-5" "04381" "TMEM147_000001" "g.36036660G>C" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35545758G>C" "" "pathogenic (recessive)" "" "0000918398" "3" "90" "19" "36036660" "36036660" "subst" "5.35239E-5" "04381" "TMEM147_000001" "g.36036660G>C" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35545758G>C" "" "pathogenic (recessive)" "" "0000918399" "3" "90" "19" "36037449" "36037452" "del" "0" "04381" "TMEM147_000004" "g.36037449_36037452del" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35546547_35546550del" "" "pathogenic (recessive)" "" "0000918400" "3" "90" "19" "36037892" "36037892" "subst" "0" "04381" "TMEM147_000007" "g.36037892G>A" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35546990G>A" "" "pathogenic (recessive)" "" "0000918401" "3" "90" "19" "36038131" "36038134" "dup" "0" "04381" "TMEM147_000012" "g.36038131_36038134dup" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35547229_35547232dup" "" "pathogenic (recessive)" "" "0000918402" "3" "90" "19" "36038087" "36038087" "subst" "2.43643E-5" "04381" "TMEM147_000011" "g.36038087C>T" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35547185C>T" "" "pathogenic (recessive)" "" "0000918403" "3" "90" "19" "36038087" "36038087" "subst" "2.43643E-5" "04381" "TMEM147_000011" "g.36038087C>T" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35547185C>T" "" "pathogenic (recessive)" "" "0000918404" "21" "90" "19" "36038077" "36038077" "subst" "0" "04381" "TMEM147_000010" "g.36038077C>G" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35547175C>G" "" "pathogenic (recessive)" "" "0000918405" "21" "90" "19" "36037921" "36037921" "dup" "0" "04381" "TMEM147_000009" "g.36037921dup" "" "{PMID:Thomas 2022:36044892}" "" "" "" "Germline" "" "" "0" "" "" "g.35547019dup" "" "pathogenic (recessive)" "" "0000951273" "0" "70" "19" "36042010" "36042010" "subst" "0" "02326" "ATP4A_000002" "g.36042010A>T" "" "" "" "ATP4A(NM_000704.3):c.2889T>A (p.N963K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000954338" "1" "90" "19" "36036812" "36036830" "del" "0" "00006" "TMEM147_000003" "g.36036812_36036830del" "" "{PMID:Riquin 2023:37495270}" "" "" "ACMG PVS1, PM2, PM3; more support for pathogenicity" "Germline" "" "" "0" "" "" "g.35545910_35545928del" "" "pathogenic" "ACMG" "0000954350" "2" "90" "19" "36038077" "36038077" "subst" "0" "00006" "TMEM147_000010" "g.36038077C>G" "" "{PMID:Riquin 2023:37495270}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.35547175C>G" "" "pathogenic" "ACMG" "0001042867" "0" "50" "19" "36034590" "36034590" "subst" "2.03562E-5" "01804" "GAPDHS_000001" "g.36034590G>A" "" "" "" "GAPDHS(NM_014364.5):c.917G>A (p.(Arg306Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 TMEM147 ## Count = 29 "{{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}}" "0000918381" "00021385" "90" "100" "0" "118" "0" "c.100_118del" "r.(?)" "p.(Lys34SerfsTer33)" "" "0000918382" "00021385" "90" "63" "0" "63" "0" "c.63C>G" "r.(?)" "p.(Tyr21Ter)" "" "0000918383" "00021385" "90" "398" "0" "398" "0" "c.398T>A" "r.(?)" "p.(Ile133Asn)" "" "0000918384" "00021385" "90" "398" "0" "398" "0" "c.398T>A" "r.(?)" "p.(Ile133Asn)" "" "0000918385" "00021385" "90" "398" "0" "398" "0" "c.398T>A" "r.(?)" "p.(Ile133Asn)" "" "0000918386" "00021385" "90" "398" "0" "398" "0" "c.398T>A" "r.(?)" "p.(Ile133Asn)" "" "0000918387" "00021385" "90" "398" "0" "398" "0" "c.398T>A" "r.(?)" "p.(Ile133Asn)" "" "0000918388" "00021385" "90" "398" "0" "398" "0" "c.398T>A" "r.(?)" "p.(Ile133Asn)" "" "0000918389" "00021385" "90" "398" "0" "398" "0" "c.398T>A" "r.(?)" "p.(Ile133Asn)" "" "0000918390" "00021385" "90" "398" "0" "398" "0" "c.398T>A" "r.(?)" "p.(Ile133Asn)" "" "0000918391" "00021385" "90" "398" "0" "398" "0" "c.398T>A" "r.(?)" "p.(Ile133Asn)" "" "0000918392" "00021385" "90" "344" "5" "344" "5" "c.344+5G>A" "r.(208_344del)" "p.(Glu70LeufsTer12)" "4i" "0000918393" "00021385" "90" "344" "5" "344" "5" "c.344+5G>A" "r.(208_344del)" "p.(Glu70LeufsTer12)" "4i" "0000918394" "00021385" "90" "344" "5" "344" "5" "c.344+5G>A" "r.(208_344del)" "p.(Glu70LeufsTer12)" "4i" "0000918395" "00021385" "90" "345" "-1" "345" "-1" "c.345-1G>T" "r.spl" "p.?" "" "0000918396" "00021385" "90" "19" "0" "19" "0" "c.19G>C" "r.(?)" "p.(Gly7Arg)" "" "0000918397" "00021385" "90" "19" "0" "19" "0" "c.19G>C" "r.(?)" "p.(Gly7Arg)" "" "0000918398" "00021385" "90" "19" "0" "19" "0" "c.19G>C" "r.(?)" "p.(Gly7Arg)" "" "0000918399" "00021385" "90" "169" "0" "172" "0" "c.169_172del" "r.(?)" "p.(Phe57ProfsTer15)" "" "0000918400" "00021385" "90" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(Trp130Ter)" "" "0000918401" "00021385" "90" "540" "0" "543" "0" "c.540_543dup" "r.(?)" "p.(Val182LeufsTer66)" "" "0000918402" "00021385" "90" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Trp)" "" "0000918403" "00021385" "90" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Trp)" "" "0000918404" "00021385" "90" "486" "0" "486" "0" "c.486C>G" "r.(?)" "p.(Tyr162Ter)" "" "0000918405" "00021385" "90" "419" "0" "419" "0" "c.419dup" "r.(?)" "p.(Asn140LysfsTer21)" "" "0000951273" "00021385" "70" "4336" "0" "4336" "0" "c.*3661A>T" "r.(=)" "p.(=)" "" "0000954338" "00021385" "90" "100" "0" "118" "0" "c.100_118del" "r.(?)" "p.(Lys34SerfsTer33)" "" "0000954350" "00021385" "90" "486" "0" "486" "0" "c.486C>G" "r.(?)" "p.(Tyr162Ter)" "" "0001042867" "00021385" "50" "-2052" "0" "-2052" "0" "c.-2052G>A" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000432773" "0000918381" "0000432773" "0000918404" "0000432774" "0000918382" "0000432774" "0000918405" "0000432775" "0000918383" "0000432776" "0000918384" "0000432777" "0000918385" "0000432778" "0000918386" "0000432779" "0000918387" "0000432780" "0000918388" "0000432781" "0000918389" "0000432782" "0000918390" "0000432783" "0000918391" "0000432784" "0000918392" "0000432785" "0000918393" "0000432786" "0000918394" "0000432787" "0000918395" "0000432788" "0000918396" "0000432789" "0000918397" "0000432790" "0000918398" "0000432791" "0000918399" "0000432792" "0000918400" "0000432793" "0000918401" "0000432794" "0000918402" "0000432795" "0000918403" "0000446083" "0000954338" "0000446083" "0000954350"