### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ST3GAL5) # 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}}" "ST3GAL5" "ST3 beta-galactoside alpha-2,3-sialyltransferase 5" "2" "p11.2" "unknown" "NG_012807.1" "UD_132119088235" "" "https://www.LOVD.nl/ST3GAL5" "" "1" "10872" "8869" "604402" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ST3GAL5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-07-18 08:34:37" "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}}" "00025300" "ST3GAL5" "transcript variant 1" "001" "NM_003896.3" "" "NP_003887.3" "" "" "" "-129" "2253" "1257" "86116157" "86066271" "00006" "2018-07-18 08:32:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "02819" "SPDRS" "salt and pepper developmental regression syndrome (SPDRS)" "DD" "609056" "" "124/125 psychomotor delay, 71/125 microcephaly, 98/125 epilepsy, 80/125 dystonia/movement disorder, 16/125 sit/walk independently, 100/125 developmental stagnation/failure to thrive, 118/125 development delay, 41/125 hearing impairment, 38/125 vision impairment, 43/125 abnormal pigmentation, 90/125 irritability, 52/125 feeding difficulties, 30/125 gastrostomy feeding tube, 7/125 facial dysmorphic features, 19/125 scoliosis, 52/125 abnormal electroencephalographic" "published in {PMID:Mu 2024:39533347}" "00006" "2014-09-25 23:29:40" "00006" "2024-11-21 10:21:16" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05461" "CDG" "glycosylation, congenital disorder of (CDG)" "" "" "" "" "" "00006" "2018-07-18 09:08:14" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ST3GAL5" "02819" ## Individuals ## Do not remove or alter this header ## ## Count = 35 "{{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}}" "00168052" "" "" "" "1" "" "02532" "{PMID:Indellicato 2019:30576498}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Italy" "13y" "0" "" "" "white" "patient" "00168053" "" "" "" "9" "" "00006" "{PMID:Simpson 2004:15502825}" "8-generation family, 9 affected (2F, 7M), unaffected carrier parents/relatives" "F;M" "yes" "United States" "" "0" "" "" "Amish" "15502825-Fam" "00168063" "" "" "" "3" "" "00006" "{PMID:Boccuto 2014:24026681}" "3-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "United States" "" "0" "" "" "African-American" "FamK6848" "00168064" "" "" "" "2" "" "00006" "{PMID:Lee 2016:27232954}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Korea" "" "0" "" "" "" "27232954-FamPat" "00168065" "" "" "" "2" "" "00006" "{PMID:Fragaki 2013:22990144}" "5-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "France" "" "0" "" "" "" "22990144-FamPatV5/6" "00168066" "" "" "" "26" "" "00006" "{PMID:Wang 2013:23436467}, {PMID:Wang 2016:26649472}" "38 individuals (19F, 19M), unaffected heterozygous carrier parents/relatives (8 reported before)" "F;M" "yes" "United States" "" "0" "" "" "" "Pats" "00375657" "" "" "" "2" "" "00006" "{PMID:Srivastava 2014:25131622}" "family, several affected" "" "yes" "United States" "" "0" "" "" "" "Pat54" "00410252" "" "" "" "2" "" "04318" "{PMID:Watanabe 2023:36690566}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Japan" "" "0" "" "" "China" "FamPat1" "00440437" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2599.1" "00457913" "" "" "" "1" "" "00006" "{PMID:Mu 2024:39533347}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "patient" "00457914" "" "" "" "1" "" "00006" "{PMID:Liang 2020:32666775}" "" "" "" "China" "" "0" "" "" "" "patient" "00457915" "" "" "" "1" "" "00006" "{PMID:Manoochehri 2021:34385424}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Iran" "" "0" "" "" "" "FamPatIV2" "00457916" "" "" "" "1" "" "00006" "{PMID:Rudy 2022:36873089}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "African-American;white" "patient" "00457924" "" "" "" "2" "" "00006" "{PMID:Heide 2022:34906476}" "family, 2 affected" "F" "" "Reunion" "" "0" "" "" "" "Fam1Pat1" "00457925" "" "" "00457924" "1" "" "00006" "{PMID:Heide 2022:34906476}" "relative" "M" "" "Reunion" "" "0" "" "" "" "Fam1Pat2" "00457926" "" "" "" "1" "" "00006" "{PMID:Heide 2022:34906476}" "" "M" "" "Reunion" "" "0" "" "" "" "Fam2Pat3" "00457927" "" "" "" "2" "" "00006" "{PMID:Heide 2022:34906476}" "family, 2 affected" "F" "" "Reunion" "" "0" "" "" "" "Fam3Pat4" "00457928" "" "" "00457927" "1" "" "00006" "{PMID:Heide 2022:34906476}" "relative" "M" "" "Reunion" "" "0" "" "" "" "Fam3Pat5" "00457929" "" "" "" "1" "" "00006" "{PMID:Heide 2022:34906476}" "" "F" "" "Reunion" "" "0" "" "" "" "Fam4Pat6" "00457930" "" "" "" "1" "" "00006" "{PMID:Heide 2022:34906476}" "" "M" "" "Reunion" "" "0" "" "" "" "Fam5Pat7" "00457931" "" "" "" "1" "" "00006" "{PMID:Heide 2022:34906476}" "" "M" "" "Reunion" "" "0" "" "" "" "Fam6Pat8" "00457932" "" "" "" "1" "" "00006" "{PMID:Heide 2022:34906476}" "" "M" "" "Reunion" "" "0" "" "" "" "Fam7Pat9" "00457933" "" "" "" "1" "" "00006" "{PMID:Heide 2022:34906476}" "" "M" "" "Reunion;Cote D\'Ivoire (Ivory Coast)" "" "0" "" "" "" "Fam8Pat10" "00457934" "" "" "" "2" "" "00006" "{PMID:Heide 2022:34906476}" "family, 2 affected" "M" "" "Algeria" "" "0" "" "" "" "Fam9Pat11" "00457935" "" "" "00457934" "1" "" "00006" "{PMID:Heide 2022:34906476}" "relative" "M" "" "Algeria" "" "0" "" "" "" "Fam9Pat12" "00457936" "" "" "" "2" "" "00006" "{PMID:Heide 2022:34906476}" "family, 2 affected" "F" "" "Italy" "" "0" "" "" "Europe" "Fam10Pat13" "00457937" "" "" "00457936" "1" "" "00006" "{PMID:Heide 2022:34906476}" "relative" "F" "" "Italy" "" "0" "" "" "Europe" "Fam10Pat14" "00457938" "" "" "" "1" "" "00006" "{PMID:Heide 2022:34906476}" "" "F" "" "Italy" "" "0" "" "" "Europe" "Fam11Pat15" "00457939" "" "" "" "1" "" "00006" "{PMID:Heide 2022:34906476}" "" "F" "" "Italy" "" "0" "" "" "Europe" "Fam12Pat16" "00457940" "" "" "" "3" "" "00006" "{PMID:Abdulkareem 2023:36833282}" "4-generation family, 3 affected sibs (2F, M), unaffected heterozygous carrier first-degree cousin parents/relatives" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPatIV1" "00457941" "" "" "00457940" "1" "" "00006" "{PMID:Abdulkareem 2023:36833282}" "sister" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPatIV2" "00457942" "" "" "00457940" "1" "" "00006" "{PMID:Abdulkareem 2023:36833282}" "brother" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPatIV3" "00457943" "" "" "00410252" "1" "" "00006" "{PMID:Watanabe 2023:36690566}" "sister" "F" "no" "Japan" "" "0" "" "" "China" "FamPat2" "00457944" "" "" "" "3" "" "00006" "{PMID:Gordon-Lipkin 2018:30185102}" "2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents" "F;M" "" "United States" "" "0" "" "" "" "family" "00469422" "" "" "" "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 = 35 "{{individualid}}" "{{diseaseid}}" "00168052" "05461" "00168053" "04270" "00168063" "02819" "00168064" "00198" "00168065" "04270" "00168066" "02819" "00375657" "00198" "00410252" "02819" "00440437" "00198" "00457913" "05611" "00457914" "00198" "00457915" "05611" "00457916" "05611" "00457924" "00198" "00457925" "00198" "00457926" "00198" "00457927" "00198" "00457928" "00198" "00457929" "00198" "00457930" "00198" "00457931" "00198" "00457932" "00198" "00457933" "00198" "00457934" "00198" "00457935" "00198" "00457936" "00198" "00457937" "00198" "00457938" "00198" "00457939" "00198" "00457940" "05611" "00457941" "05611" "00457942" "05611" "00457943" "02819" "00457944" "00139" "00469422" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 02819, 04270, 05461, 05611 ## Count = 35 "{{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}}" "0000132917" "04270" "00168053" "00006" "Familial, autosomal recessive" "" "see paper; ..., infantile-onset\r\nsymptomatic epilepsy syndrome, developmental stagnation, blindness" "" "" "" "" "" "" "" "" "SPDRS" "infantile-onset symptomatic epilepsy syndrome" "" "0000132918" "05461" "00168052" "02532" "Familial, autosomal recessive" "00y04m?" "includes syndromes previously referred to as SPDRS (salt & pepper develpmental regression syndrome) and Amish type Epilepsy.\r\nHP:0002133, HP:0000252, HP:0100704, HP:0001034, HP:0008972, HP:0002151" "00y04m?" "10y" "HP:0001508, HP:0001252, HP:0000365, HP:0000737" "" "" "" "" "" "SPDRS" "congenital disorders of glycosylation" "" "0000132929" "02819" "00168063" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features, altered dermal pigmentation" "" "" "" "" "" "" "" "" "SPDRS" "salt & pepper syndrome" "" "0000132930" "00198" "00168064" "00006" "Familial, autosomal recessive" "" "see paper; ..., delayed speech, hand\r\nstereotypies with a loss of purposeful hand movements, choreoathetosis, no clinical seizures; microcephaly (1), other small head circumference (1)" "" "" "" "" "" "" "" "" "SPDRS" "Rett syndrome-like" "" "0000132931" "04270" "00168065" "00006" "Familial, autosomal recessive" "" "see paper; ..., early-onset refractory epilepsy, psychomotor delay, failure to thrive, blindness, deafness" "" "" "" "" "" "" "" "" "SPDRS" "early-onset refractory epilepsy" "" "0000132932" "02819" "00168066" "00006" "Familial, autosomal recessive" "" "infantile onset of severe irritability (1w-6m), hypotonia, failure to thrive, profound developmental delay and intellectual disability, retractable seizure (severity variable), failed newborn hearing screening" "" "" "" "" "" "" "" "" "SPDRS" "" "" "0000270870" "00198" "00375657" "00006" "Familial, autosomal recessive" "" "intellectual disability/developmental delay; spastic quadriplegia; blindness; deafness; spastic quadriplegia, decreased muscle bulk, hypotonia; self-injurious behavior, stereotyped behavior; MRI brain normal" "" "10y" "" "" "" "" "" "" "" "" "" "0000302357" "02819" "00410252" "04318" "Familial, autosomal recessive" "20y" "global developmental delay (HP:0001263); involuntary movements (HP:0004305) (shaking head, flapping limbs); seizure (HP:0001250); hearing impairment (HP:0000365); visual impairment (HP:0000505); scoliosis (HP:0002650); feeding difficulties, irritability, poor eye contact, skin pigmentation; EEG 4y-multifocal spike-wave discharges, focal slow waves and spikes; 1m-vomit frequently (5y disappeared); 25y-severe intellectual disability" "00y01m" "" "Irritability (HP:0000737)" "" "" "" "" "" "SPDRS" "developmental delay" "" "0000330347" "00198" "00440437" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Amish infantile epilepsy syndrome (MIM #609056)" "" "" "0000346363" "05611" "00457913" "00006" "Familial, autosomal recessive" "04y" "see paper; ..., brith neonatal jaundice; 3m-high fever, generalized rigidity, clenched fists, staring eyes, cyanosis lips (1 min)" "" "" "" "" "" "" "" "" "SPDRS" "" "" "0000346364" "00198" "00457914" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SPDRS" "" "" "0000346365" "05611" "00457915" "00006" "Familial, autosomal recessive" "03y06m" "see paper; ..., global developmental delay; prenatal 18w-microcephaly; normal birth parameters, subsequent regression; failed to reach developmental milestones; 2m-irritability, poor feeding, failure to thrive" "" "" "" "" "" "" "" "" "SPDRS" "global developmental delay" "" "0000346366" "05611" "00457916" "00006" "Familial, X-linked" "03y" "see paper; ..., birth normal growth parameters, poor growth early in life, global developmental delay, microcephaly, EEG abnormal, seizures, mild dyskinetic movements (at 4m), early childhood MRI brain normal, feeding difficulties, reflux, vomiting, constipation, scoliosis, contractures, hearing impairment, cortical visual impairment, exotropia, esotropia, optic nerve atrophy, dyspigmentation skin, irritability, poor sleep" "" "00y07m" "" "" "" "" "" "" "SPDRS" "dysphagia, failure to thrive, electrolyte abnormalities, cortical visual impairment, developmental delay" "" "0000346374" "00198" "00457924" "00006" "Familial, autosomal recessive" "7y2m" "see paper; ..., feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; no optic atrophy/pale papillae; 16m-myoclonic seizures; microcephaly (SD-2.9); hypotrophy; choreo-athetosis, stereotypies; 5y-skin hyper/hypopigmented macules" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346375" "00198" "00457925" "00006" "Familial, autosomal recessive" "3y9m" "see paper; ..., feeding difficulties; no irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; optic atrophy/pale papillae; 14m-myoclonic seizures; no microcephaly (SD-1.7); no hypotrophy; choreo-athetosis, stereotypies; normal pigmentation skin" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346376" "00198" "00457926" "00006" "Familial, autosomal recessive" "4y9m" "see paper; ..., feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; no eye contact; optic atrophy/pale papillae; epilepsy; microcephaly (SD); no hypotrophy; normal pigmentation skin" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346377" "00198" "00457927" "00006" "Familial, autosomal recessive" "7y6m" "see paper; ..., feeding difficulties; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; epilepsy; microcephaly (SD-4.4); hypotrophy; dyskinesia, chorea; normal pigmentation skin" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346378" "00198" "00457928" "00006" "Familial, autosomal recessive" "2y6m" "see paper; ..., no feeding difficulties; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; optic atrophy/pale papillae; epilepsy; microcephaly (SD-2.7); hypotrophy; dyskinesia, chorea; normal pigmentation skin" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346379" "00198" "00457929" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., no feeding difficulties; no irritability; profound intellectual disability; not sitting; not walking; nonverbal; ; no hearing loss; poor eye contact; optic atrophy/pale papillae; 7m-infantile spasms; no microcephaly (SD-1.8); hypotrophy; truncal hypotonia; normal pigmentation skin" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346380" "00198" "00457930" "00006" "Familial, autosomal recessive" "2y8m" "see paper; ..., feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; purposeful absent use of hands; no hearing loss; eye contact; no epilepsy; no microcephaly (SD-1.4); no hypotrophy; choreo-athetosis; 2y-one café-au-lait spot" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346381" "00198" "00457931" "00006" "Familial, autosomal recessive" "2y" "see paper; ..., feeding difficulties; no irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; eye contact; optic atrophy/pale papillae; 14m-tonic-clonic seizures; microcephaly (SD-4); hypotrophy; normal pigmentation skin" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346382" "00198" "00457932" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., no feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; eye contact; 6m-infantile spasms; microcephaly (SD-2.8); hypotrophy; choreo-athetosis; normal pigmentation skin" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346383" "00198" "00457933" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; no hearing loss; no eye contact; no optic atrophy/pale papillae; no epilepsy; microcephaly (SD-2.6); hypotrophy; truncal hypotonia, distal choreo-dystonic movements, stereotypies; 6y-skin hyper/hypopigmented macules" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346384" "00198" "00457934" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., no feeding difficulties; irritability; severe intellectual disability; 14m-sit; 3y-clumsy gait; nonverbal; ; no hearing loss; no eye contact; no optic atrophy/pale papillae; no epilepsy; no microcephaly (SD-1.6); no hypotrophy; choreo-athetosis; normal pigmentation skin" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346385" "00198" "00457935" "00006" "Familial, autosomal recessive" "3y6m" "see paper; ..., no feeding difficulties; irritability; severe intellectual disability; not sitting; not walking; nonverbal; ; no hearing loss; no eye contact; no optic atrophy/pale papillae; no epilepsy; no microcephaly (SD-1.3); no hypotrophy; choreo-athetosis; normal pigmentation skin" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346386" "00198" "00457936" "00006" "Familial, autosomal recessive" "11y11m" "see paper; ..., feeding difficulties; irritability; severe intellectual disability; 2y-sit; not walking; nonverbal; absent use of hands; no hearing loss; no eye contact; no optic atrophy/pale papillae; 2y6m-infantile spasms, focal motor seizures; no microcephaly (SD-2); no hypotrophy; truncal hypotonia; skin hyperpigmented spots hands and feet" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346387" "00198" "00457937" "00006" "Familial, autosomal recessive" "3y6m" "see paper; ..., no feeding difficulties; severe intellectual disability; not sitting; not walking; nonverbal; absent use of hands; no hearing loss; no eye contact; no optic atrophy/pale papillae; 5m-infantile spasms, focal motor seizures; no microcephaly (SD-1.1); no hypotrophy; truncal hypotonia; skin hyperpigmented spots on back" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346388" "00198" "00457938" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; myoclonic seizures; microcephaly (SD-6.8); hypotrophy; stereotypies, axial hypotonia, dyskinesia; hyperpigmented skin, small maculas hands and feet" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346389" "00198" "00457939" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., feeding difficulties; irritability; profound intellectual disability; not sitting; not walking; nonverbal; absent use of hands; hearing loss; no eye contact; no optic atrophy/pale papillae; 4m-infantile spasms, myoclonic seizures; microcephaly (SD-4.5); hypotrophy; stereotypies, axial hypotonia, dyskinesia; normal pigmentation skin" "" "" "" "" "" "" "" "" "SPDRS" "GM3 synthase deficiency" "" "0000346390" "05611" "00457940" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., 3y-global developmental delay, short stature, failure to thrive; no facial dysmorphic features; 2y-seizures, retinal degeneration; EEG 3y-bilateral/symmetric spike/wave complexes, polyspikes; unable to sit; no speech; unable to follow commands; intellectual disability (DQ3), dystonic cerebral palsy; growth parametersweiht/height <1st percentile, OFC 52 cm (2nd percentile)" "" "" "" "" "" "" "" "" "SPDRS" "global developmental delay," "" "0000346391" "05611" "00457941" "00006" "Familial, autosomal recessive" "12y" "see paper; ..., severe atopic dermatitis, developmental delay, failure to thrive; 3y-quadriplegic cerebral palsy, moderate axial hypotonia, frequent purposeless movements, mild spasticity distal lower extremities; no speech, vocalized with no words; unable to follow commands; MRI brain normal, qualitative diffusion tensor imaging; 6y-not sitting, severe movement disorder" "" "" "" "" "" "" "" "" "SPDRS" "developmental delay" "" "0000346392" "05611" "00457942" "00006" "Familial, autosomal recessive" "09y" "see paper; ..., 9m-developmental delay, unable to sit/roll/crawl; 6y-MRI brain normal; 2y-started pulling to stand, cruising on furniture; no speech, babbling/gestures; EEG multifocal bilateral sharps with seizures; able to self-feed; growthweight/height <1st percentile" "" "" "" "" "" "" "" "" "SPDRS" "developmental delay" "" "0000346393" "02819" "00457943" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., global developmental delay (HP:0001263); involuntary movements (HP:0004305) (6m-resteless movements); seizure (HP:0001250); hearing impairment (HP:0000365); visual impairment (HP:0000505); feeding difficulties, irritability; EEG 4y-multifocal spike-wave discharges, focal slow waves and spikes; 1m-vomit frequently (5y disappeared); 18y-bedridden, no voluntary/involuntary movements, intractable epilepsy, spastic quadriplegia, severe constipation, requires strict management intestinal dysfunction, frequent treatment for pneumonia" "" "" "" "" "" "" "" "" "SPDRS" "developmental delay" "" "0000346394" "00139" "00457944" "00006" "Familial, autosomal recessive" "21y/13y/7y" "intellectual disability (3/3), developmental delay (3/3), no neurodevelopmental deterioration, no speech (3/3), choreoathetosis (3/3), mixed tone, able to walk (1/3), no epilepsy, EEG abnormal (3/3), sensorineural hearing impairment (3/3), vision impairment (3/3), microcephaly (3/3), failure to thrive (3/3), gastrostomy tube dependence (2/3), feeds by mouth (2/3), skin pigment changes (2/3), severe atopic dermatitis/ichthyosis (2/3), sleep disturbance (2/3), self-injurious behavior (3/3),; normal prenatal/birth history (3/3), normal birth parameters" "" "" "" "" "" "" "" "" "SPDRS" "intellectual disability" "" "0000354575" "00198" "00469422" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 35 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000168930" "00168052" "1" "02532" "02532" "2018-07-17 12:53:53" "" "" "expr;SEQ;SEQ-NG-I" "DNA;RNA;protein" "" "TruSightONE Clinical Exome" "0000168931" "00168053" "1" "00006" "00006" "2018-07-18 08:53:58" "" "" "SEQ" "DNA" "" "" "0000168935" "00168063" "1" "00006" "00006" "2018-07-18 21:58:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000168936" "00168064" "1" "00006" "00006" "2018-07-18 22:15:25" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000168937" "00168065" "1" "00006" "00006" "2018-07-18 22:29:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000168938" "00168066" "1" "00006" "00006" "2018-07-18 22:43:03" "" "" "SEQ" "DNA" "" "" "0000376854" "00375657" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000411516" "00410252" "1" "04318" "04318" "2022-05-22 14:12:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000441922" "00440437" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459533" "00457913" "1" "00006" "00006" "2024-11-21 10:12:10" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000459534" "00457914" "1" "00006" "00006" "2024-11-21 10:26:36" "" "" "SEQ-NG" "DNA" "" "" "0000459535" "00457915" "1" "00006" "00006" "2024-11-21 10:42:15" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459536" "00457916" "1" "00006" "00006" "2024-11-21 10:52:30" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000459544" "00457924" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459545" "00457925" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459546" "00457926" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459547" "00457927" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459548" "00457928" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459549" "00457929" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459550" "00457930" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459551" "00457931" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459552" "00457932" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459553" "00457933" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459554" "00457934" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459555" "00457935" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459556" "00457936" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459557" "00457937" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459558" "00457938" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459559" "00457939" "1" "00006" "00006" "2024-11-21 14:48:01" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000459560" "00457940" "1" "00006" "00006" "2024-11-21 15:47:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000459561" "00457941" "1" "00006" "00006" "2024-11-21 15:47:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000459562" "00457942" "1" "00006" "00006" "2024-11-21 15:47:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000459563" "00457943" "1" "00006" "00006" "2024-11-21 16:25:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000459564" "00457944" "1" "00006" "00006" "2024-11-21 16:43:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000471090" "00469422" "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 = 6 "{{screeningid}}" "{{geneid}}" "0000168931" "ST3GAL5" "0000168935" "ST3GAL5" "0000168936" "ST3GAL5" "0000168937" "ST3GAL5" "0000168938" "ST3GAL5" "0000411516" "ST3GAL5" ## 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 = 60 "{{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}}" "0000315759" "0" "90" "2" "86071665" "86071665" "subst" "2.43843E-5" "01943" "ST3GAL5_000001" "g.86071665G>A" "" "" "" "ST3GAL5(NM_003896.3):c.862C>T (p.R288*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85844542G>A" "" "pathogenic" "" "0000327144" "0" "50" "2" "86075310" "86075310" "dup" "0" "01804" "ST3GAL5_000002" "g.86075310dup" "" "" "" "ST3GAL5(NM_001042437.1):c.267_268insT (p.(Gln90SerfsTer22))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85848187dup" "" "VUS" "" "0000348219" "0" "50" "2" "86075167" "86075167" "subst" "0" "02327" "ST3GAL5_000003" "g.86075167G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.85848044G>T" "" "VUS" "" "0000378693" "3" "90" "2" "86067500" "86067500" "subst" "0" "02532" "ST3GAL5_000004" "g.86067500C>T" "" "{PMID:Indellicato 2019:30576498}" "" "" "" "Germline" "" "" "0" "" "" "g.85840377C>T" "" "pathogenic (recessive)" "" "0000378694" "3" "90" "2" "86071665" "86071665" "subst" "2.43843E-5" "00006" "ST3GAL5_000001" "g.86071665G>A" "" "{PMID:Simpson 2004:15502825}, {OMIM604402:0001}" "" "694C>T (R232X)" "linkage LOD 6.84 around marker D2S2162" "Germline" "yes" "rs104893668" "0" "" "" "g.85844542G>A" "" "pathogenic (recessive)" "" "0000379073" "3" "90" "2" "86067461" "86067461" "subst" "2.03102E-5" "00006" "ST3GAL5_000005" "g.86067461C>T" "" "{PMID:Boccuto 2014:24026681}, {OMIM604402:0002}" "" "994G>A (E332K)" "tested in vitro" "Germline" "yes" "rs534438354" "0" "" "" "g.85840338C>T" "" "pathogenic (recessive)" "" "0000379074" "11" "90" "2" "86075062" "86075062" "subst" "0" "00006" "ST3GAL5_000006" "g.86075062C>G" "" "{PMID:Lee 2016:27232954}, {OMIM604402:0003}" "" "" "" "Germline" "yes" "rs886037930" "0" "" "" "g.85847939C>G" "" "pathogenic (recessive)" "" "0000379075" "21" "90" "2" "86075045" "86075045" "subst" "1.22193E-5" "00006" "ST3GAL5_000007" "g.86075045C>T" "" "{PMID:Lee 2016:27232954}, {OMIM604402:0004}" "" "" "" "Germline" "yes" "rs771732955" "0" "" "" "g.85847922C>T" "" "pathogenic (recessive)" "" "0000379076" "3" "90" "2" "86071665" "86071665" "subst" "2.43843E-5" "00006" "ST3GAL5_000001" "g.86071665G>A" "" "{PMID:Fragaki 2013:22990144}, {OMIM604402:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85844542G>A" "" "pathogenic (recessive)" "" "0000379077" "3" "90" "2" "86071665" "86071665" "subst" "2.43843E-5" "00006" "ST3GAL5_000001" "g.86071665G>A" "" "{PMID:Wang 2016:26649472}, {OMIM604402:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85844542G>A" "" "pathogenic (recessive)" "" "0000517028" "0" "30" "2" "86115959" "86115959" "subst" "0" "01804" "ST3GAL5_000008" "g.86115959G>A" "" "" "" "ST3GAL5(NM_003896.3):c.70C>T (p.(Pro24Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85888836G>A" "" "likely benign" "" "0000517029" "0" "10" "2" "86115992" "86115992" "subst" "0.00572117" "01804" "ST3GAL5_000009" "g.86115992G>A" "" "" "" "ST3GAL5(NM_003896.4):c.37C>T (p.(Pro13Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.85888869G>A" "" "benign" "" "0000676730" "0" "70" "2" "86088340" "86088340" "del" "0" "01943" "ST3GAL5_000010" "g.86088340del" "" "" "" "ST3GAL5(NM_001354227.1):c.198delG (p.M66Ifs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000688867" "0" "50" "2" "86088304" "86088304" "dup" "0" "01943" "ST3GAL5_000011" "g.86088304dup" "" "" "" "ST3GAL5(NM_001354233.1):c.-684+1dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719081" "0" "30" "2" "86067277" "86067277" "subst" "0.000418447" "01943" "ST3GAL5_000012" "g.86067277C>A" "" "" "" "ST3GAL5(NM_001354247.1):c.524G>T (p.R175L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000788909" "3" "70" "2" "86071665" "86071665" "subst" "2.43843E-5" "00006" "ST3GAL5_000001" "g.86071665G>A" "" "{PMID:Srivastava 2014:25131622}" "" "" "" "Germline" "" "" "0" "" "" "g.85844542G>A" "" "likely pathogenic" "" "0000800835" "0" "30" "2" "86074998" "86074998" "subst" "0.00254355" "01943" "ST3GAL5_000013" "g.86074998G>A" "" "" "" "ST3GAL5(NM_001354248.1):c.264C>T (p.F88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800836" "0" "30" "2" "86075231" "86075231" "subst" "2.43671E-5" "01943" "ST3GAL5_000014" "g.86075231C>T" "" "" "" "ST3GAL5(NM_001354248.1):c.31G>A (p.V11M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800837" "0" "30" "2" "86075256" "86075256" "subst" "0.00106424" "01943" "ST3GAL5_000015" "g.86075256C>T" "" "" "" "ST3GAL5(NM_001354248.1):c.6G>A (p.A2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000868652" "21" "90" "2" "86071528" "86071528" "del" "0" "04318" "ST3GAL5_000017" "g.86071528del" "" "{PMID:Watanabe 2023:36690566}" "" "NM_003896.4:1000delC" "" "Germline" "" "" "0" "" "" "g.85844405del" "" "pathogenic (recessive)" "" "0000868653" "11" "90" "2" "86067312" "86067312" "dup" "0" "04318" "ST3GAL5_000016" "g.86067312dup" "" "{PMID:Watanabe 2023:36690566}" "" "1214dupG" "" "Germline" "yes" "" "0" "" "" "g.85840189dup" "" "pathogenic (recessive)" "" "0000939864" "3" "70" "2" "86073609" "86073609" "subst" "0" "00006" "ST3GAL5_000018" "g.86073609C>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline" "" "" "0" "" "" "g.85846486C>T" "" "likely pathogenic (recessive)" "" "0001017581" "21" "90" "2" "86071528" "86071528" "del" "0" "00006" "ST3GAL5_000017" "g.86071528del" "" "{PMID:Mu 2024:39533347}" "" "1000delC" "" "Germline" "" "" "0" "" "" "g.85844405del" "" "likely pathogenic (recessive)" "ACMG" "0001017582" "11" "90" "2" "86088416" "86088416" "subst" "4.07714E-6" "00006" "ST3GAL5_000019" "g.86088416C>A" "" "{PMID:Mu 2024:39533347}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.85861293C>A" "" "likely pathogenic (recessive)" "ACMG" "0001017583" "1" "90" "2" "86067464" "86067464" "subst" "4.06217E-6" "00006" "ST3GAL5_000020" "g.86067464C>T" "" "{PMID:Liang 2020:32666775}" "" "D331N" "" "Germline" "" "" "0" "" "" "g.85840341C>T" "" "likely pathogenic (recessive)" "" "0001017584" "2" "90" "2" "86073612" "86073612" "subst" "0" "00006" "ST3GAL5_000021" "g.86073612T>C" "" "{PMID:Liang 2020:32666775}" "" "E223G" "" "Germline" "" "" "0" "" "" "g.85846489T>C" "" "likely pathogenic (recessive)" "" "0001017585" "3" "90" "2" "86067493" "86067494" "del" "0" "00006" "ST3GAL5_000022" "g.86067493_86067494del" "" "{PMID:Manoochehri 2021:34385424}" "" "" "ACMG PVS1, PM2, PM3, PP3" "Germline" "" "" "0" "" "" "g.85840370_85840371del" "" "pathogenic (recessive)" "ACMG" "0001017586" "21" "70" "2" "86067403" "86067403" "subst" "0" "00006" "ST3GAL5_000023" "g.86067403T>C" "" "{PMID:Rudy 2022:36873089}" "" "" "" "Germline" "" "" "0" "" "" "g.85840280T>C" "" "likely pathogenic (recessive)" "" "0001017587" "11" "70" "2" "86067359" "86067359" "subst" "4.06276E-6" "00006" "ST3GAL5_000024" "g.86067359G>C" "" "{PMID:Rudy 2022:36873089}" "" "" "" "Germline" "" "" "0" "" "" "g.85840236G>C" "" "likely pathogenic (recessive)" "" "0001017599" "3" "70" "2" "86073609" "86073609" "subst" "0" "00006" "ST3GAL5_000018" "g.86073609C>T" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85846486C>T" "" "likely pathogenic (recessive)" "" "0001017600" "3" "70" "2" "86073609" "86073609" "subst" "0" "00006" "ST3GAL5_000018" "g.86073609C>T" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85846486C>T" "" "likely pathogenic (recessive)" "" "0001017601" "3" "70" "2" "86073609" "86073609" "subst" "0" "00006" "ST3GAL5_000018" "g.86073609C>T" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85846486C>T" "" "likely pathogenic (recessive)" "" "0001017602" "3" "70" "2" "86073609" "86073609" "subst" "0" "00006" "ST3GAL5_000018" "g.86073609C>T" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85846486C>T" "" "likely pathogenic (recessive)" "" "0001017603" "3" "70" "2" "86073609" "86073609" "subst" "0" "00006" "ST3GAL5_000018" "g.86073609C>T" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85846486C>T" "" "likely pathogenic (recessive)" "" "0001017604" "3" "70" "2" "86073609" "86073609" "subst" "0" "00006" "ST3GAL5_000018" "g.86073609C>T" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85846486C>T" "" "likely pathogenic (recessive)" "" "0001017605" "3" "70" "2" "86073609" "86073609" "subst" "0" "00006" "ST3GAL5_000018" "g.86073609C>T" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85846486C>T" "" "likely pathogenic (recessive)" "" "0001017606" "3" "70" "2" "86073609" "86073609" "subst" "0" "00006" "ST3GAL5_000018" "g.86073609C>T" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85846486C>T" "" "likely pathogenic (recessive)" "" "0001017607" "3" "70" "2" "86073609" "86073609" "subst" "0" "00006" "ST3GAL5_000018" "g.86073609C>T" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85846486C>T" "" "likely pathogenic (recessive)" "" "0001017608" "1" "70" "2" "86073609" "86073609" "subst" "0" "00006" "ST3GAL5_000018" "g.86073609C>T" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85846486C>T" "" "likely pathogenic (recessive)" "" "0001017609" "3" "70" "2" "86067269" "86067269" "subst" "0" "00006" "ST3GAL5_000026" "g.86067269A>G" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85840146A>G" "" "likely pathogenic (recessive)" "" "0001017610" "3" "70" "2" "86067269" "86067269" "subst" "0" "00006" "ST3GAL5_000026" "g.86067269A>G" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85840146A>G" "" "likely pathogenic (recessive)" "" "0001017611" "1" "90" "2" "86071527" "86071527" "subst" "8.12671E-6" "00006" "ST3GAL5_000028" "g.86071527G>A" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85844404G>A" "" "pathogenic (recessive)" "" "0001017612" "1" "90" "2" "86071527" "86071527" "subst" "8.12671E-6" "00006" "ST3GAL5_000028" "g.86071527G>A" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85844404G>A" "" "pathogenic (recessive)" "" "0001017613" "3" "70" "2" "86067358" "86067358" "subst" "0" "00006" "ST3GAL5_000027" "g.86067358T>C" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85840235T>C" "" "likely pathogenic (recessive)" "" "0001017614" "21" "70" "2" "86067358" "86067358" "subst" "0" "00006" "ST3GAL5_000027" "g.86067358T>C" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85840235T>C" "" "likely pathogenic (recessive)" "" "0001017615" "2" "90" "2" "86067461" "86067461" "subst" "2.03102E-5" "00006" "ST3GAL5_000005" "g.86067461C>T" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85840338C>T" "" "pathogenic (recessive)" "" "0001017616" "2" "70" "2" "86067358" "86067358" "subst" "0" "00006" "ST3GAL5_000027" "g.86067358T>C" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85840235T>C" "" "likely pathogenic (recessive)" "" "0001017617" "2" "70" "2" "86067358" "86067358" "subst" "0" "00006" "ST3GAL5_000027" "g.86067358T>C" "" "{PMID:Heide 2022:34906476}" "" "" "" "Germline" "" "" "0" "" "" "g.85840235T>C" "" "likely pathogenic (recessive)" "" "0001017618" "0" "90" "2" "86067500" "86067500" "subst" "0" "00006" "ST3GAL5_000004" "g.86067500C>T" "" "{PMID:Heide 2022:34906476}" "" "" "" "De novo" "" "" "0" "" "" "g.85840377C>T" "" "pathogenic (recessive)" "" "0001017619" "3" "90" "2" "86088401" "86088401" "subst" "0" "00006" "ST3GAL5_000025" "g.86088401A>T" "" "{PMID:Abdulkareem 2023:36833282}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85861278A>T" "" "pathogenic (recessive)" "" "0001017620" "3" "90" "2" "86088401" "86088401" "subst" "0" "00006" "ST3GAL5_000025" "g.86088401A>T" "" "{PMID:Abdulkareem 2023:36833282}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85861278A>T" "" "pathogenic (recessive)" "" "0001017621" "3" "90" "2" "86088401" "86088401" "subst" "0" "00006" "ST3GAL5_000025" "g.86088401A>T" "" "{PMID:Abdulkareem 2023:36833282}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85861278A>T" "" "pathogenic (recessive)" "" "0001017622" "11" "90" "2" "86067312" "86067312" "dup" "0" "04318" "ST3GAL5_000016" "g.86067312dup" "" "{PMID:Watanabe 2023:36690566}" "" "1214dupG" "" "Germline" "yes" "" "0" "" "" "g.85840189dup" "" "pathogenic (recessive)" "" "0001017623" "21" "90" "2" "86071528" "86071528" "del" "0" "04318" "ST3GAL5_000017" "g.86071528del" "" "{PMID:Watanabe 2023:36690566}" "" "1000delC" "" "Germline" "yes" "" "0" "" "" "g.85844405del" "" "pathogenic (recessive)" "" "0001017624" "3" "90" "2" "86071665" "86071665" "subst" "2.43843E-5" "00006" "ST3GAL5_000001" "g.86071665G>A" "" "{PMID:Gordon-Lipkin 2018:30185102}" "" "" "" "Germline" "yes" "" "0" "" "" "g.85844542G>A" "" "pathogenic (recessive)" "" "0001033506" "0" "30" "2" "86071682" "86071682" "subst" "0.000906585" "02326" "ST3GAL5_000029" "g.86071682G>A" "" "" "" "ST3GAL5(NM_003896.3):c.850-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033507" "0" "30" "2" "86074966" "86074967" "del" "0" "02326" "ST3GAL5_000030" "g.86074966_86074967del" "" "" "" "ST3GAL5(NM_003896.3):c.662+18_662+19delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001050714" "0" "90" "2" "86067461" "86067461" "subst" "2.03102E-5" "01804" "ST3GAL5_000005" "g.86067461C>T" "" "" "" "ST3GAL5(NM_003896.4):c.1063G>A (p.(Glu355Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001050715" "0" "50" "2" "86075261" "86075261" "subst" "2.84398E-5" "01804" "ST3GAL5_000031" "g.86075261T>C" "" "" "" "ST3GAL5(NM_001354223.2):c.1A>G (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001059212" "0" "90" "2" "86071665" "86071665" "subst" "2.43843E-5" "00006" "ST3GAL5_000001" "g.86071665G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.85844542G>A" "" "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 ST3GAL5 ## Count = 60 "{{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}}" "0000315759" "00025300" "90" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288Ter)" "" "0000327144" "00025300" "50" "336" "0" "336" "0" "c.336dup" "r.(?)" "p.(Gln113SerfsTer22)" "" "0000348219" "00025300" "50" "479" "0" "479" "0" "c.479C>A" "r.(?)" "p.(Pro160His)" "" "0000378693" "00025300" "90" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Gly342Ser)" "7" "0000378694" "00025300" "90" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288*)" "6" "0000379073" "00025300" "90" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Glu355Lys)" "7" "0000379074" "00025300" "90" "584" "0" "584" "0" "c.584G>C" "r.(?)" "p.(Cys195Ser)" "4" "0000379075" "00025300" "90" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Gly201Arg)" "4" "0000379076" "00025300" "90" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288*)" "6" "0000379077" "00025300" "90" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288*)" "6" "0000517028" "00025300" "30" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Pro24Ser)" "" "0000517029" "00025300" "10" "37" "0" "37" "0" "c.37C>T" "r.(?)" "p.(Pro13Ser)" "" "0000676730" "00025300" "70" "282" "0" "282" "0" "c.282del" "r.(?)" "p.(Met94IlefsTer12)" "" "0000688867" "00025300" "50" "318" "1" "318" "1" "c.318+1dup" "r.spl?" "p.?" "" "0000719081" "00025300" "30" "1247" "0" "1247" "0" "c.1247G>T" "r.(?)" "p.(Arg416Leu)" "" "0000788909" "00025300" "70" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288Ter)" "" "0000800835" "00025300" "30" "648" "0" "648" "0" "c.648C>T" "r.(?)" "p.(Phe216=)" "" "0000800836" "00025300" "30" "415" "0" "415" "0" "c.415G>A" "r.(?)" "p.(Val139Met)" "" "0000800837" "00025300" "30" "390" "0" "390" "0" "c.390G>A" "r.(?)" "p.(Ala130=)" "" "0000868652" "00025300" "90" "1000" "0" "1000" "0" "c.1000del" "r.(?)" "p.(Arg334Glufs*15)" "" "0000868653" "00025300" "90" "1214" "0" "1214" "0" "c.1214dup" "r.(?)" "p.(Val406Serfs*10)" "" "0000939864" "00025300" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "5" "0001017581" "00025300" "90" "1000" "0" "1000" "0" "c.1000del" "r.(?)" "p.(Arg334Glufs*15)" "" "0001017582" "00025300" "90" "207" "-1" "207" "-1" "c.207-1G>T" "r.(207_318del)" "p.(Cys70Glufs*81)" "" "0001017583" "00025300" "90" "1060" "0" "1060" "0" "c.1060G>A" "r.(?)" "p.(Asp354Asn)" "" "0001017584" "00025300" "90" "737" "0" "737" "0" "c.737A>G" "r.(?)" "p.(Glu246Gly)" "" "0001017585" "00025300" "90" "1030" "0" "1031" "0" "c.1030_1031del" "r.(?)" "p.(Ile344Cysfs*11)" "" "0001017586" "00025300" "70" "1121" "0" "1121" "0" "c.1121A>G" "r.(?)" "p.(Tyr374Cys)" "" "0001017587" "00025300" "70" "1165" "0" "1165" "0" "c.1165C>G" "r.(?)" "p.(His389Asp)" "" "0001017599" "00025300" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "" "0001017600" "00025300" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "" "0001017601" "00025300" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "" "0001017602" "00025300" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "" "0001017603" "00025300" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "" "0001017604" "00025300" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "" "0001017605" "00025300" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "" "0001017606" "00025300" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "" "0001017607" "00025300" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "" "0001017608" "00025300" "70" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "" "0001017609" "00025300" "70" "1255" "0" "1255" "0" "c.1255T>C" "r.(?)" "p.(Ter419ArgextTer38)" "" "0001017610" "00025300" "70" "1255" "0" "1255" "0" "c.1255T>C" "r.(?)" "p.(Ter419ArgextTer38)" "" "0001017611" "00025300" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334Ter)" "" "0001017612" "00025300" "90" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334Ter)" "" "0001017613" "00025300" "90" "1166" "0" "1166" "0" "c.1166A>G" "r.(?)" "p.(His389Arg)" "" "0001017614" "00025300" "70" "1166" "0" "1166" "0" "c.1166A>G" "r.(?)" "p.(His389Arg)" "" "0001017615" "00025300" "90" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Glu355Lys)" "" "0001017616" "00025300" "70" "1166" "0" "1166" "0" "c.1166A>G" "r.(?)" "p.(His389Arg)" "" "0001017617" "00025300" "70" "1166" "0" "1166" "0" "c.1166A>G" "r.(?)" "p.(His389Arg)" "" "0001017618" "00025300" "90" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Gly342Ser)" "" "0001017619" "00025300" "90" "221" "0" "221" "0" "c.221T>A" "r.(?)" "p.(Val74Glu)" "" "0001017620" "00025300" "90" "221" "0" "221" "0" "c.221T>A" "r.(?)" "p.(Val74Glu)" "" "0001017621" "00025300" "90" "221" "0" "221" "0" "c.221T>A" "r.(?)" "p.(Val74Glu)" "" "0001017622" "00025300" "90" "1214" "0" "1214" "0" "c.1214dup" "r.(?)" "p.(Val406Serfs*10)" "" "0001017623" "00025300" "90" "1000" "0" "1000" "0" "c.1000del" "r.(?)" "p.(Arg334Glufs*15)" "" "0001017624" "00025300" "90" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288*)" "" "0001033506" "00025300" "30" "850" "-5" "850" "-5" "c.850-5C>T" "r.spl?" "p.?" "" "0001033507" "00025300" "30" "662" "18" "662" "19" "c.662+18_662+19del" "r.(=)" "p.(=)" "" "0001050714" "00025300" "90" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Glu355Lys)" "" "0001050715" "00025300" "50" "385" "0" "385" "0" "c.385A>G" "r.(?)" "p.(Met129Val)" "" "0001059212" "00025300" "90" "862" "0" "862" "0" "c.862C>T" "r.(?)" "p.(Arg288Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{variantid}}" "0000168930" "0000378693" "0000168931" "0000378694" "0000168935" "0000379073" "0000168936" "0000379074" "0000168936" "0000379075" "0000168937" "0000379076" "0000168938" "0000379077" "0000376854" "0000788909" "0000411516" "0000868652" "0000411516" "0000868653" "0000441922" "0000939864" "0000459533" "0001017581" "0000459533" "0001017582" "0000459534" "0001017583" "0000459534" "0001017584" "0000459535" "0001017585" "0000459536" "0001017586" "0000459536" "0001017587" "0000459544" "0001017599" "0000459545" "0001017600" "0000459546" "0001017601" "0000459547" "0001017602" "0000459548" "0001017603" "0000459549" "0001017604" "0000459550" "0001017605" "0000459551" "0001017606" "0000459552" "0001017607" "0000459553" "0001017608" "0000459553" "0001017615" "0000459554" "0001017609" "0000459555" "0001017610" "0000459556" "0001017611" "0000459556" "0001017616" "0000459557" "0001017612" "0000459557" "0001017617" "0000459558" "0001017613" "0000459559" "0001017614" "0000459559" "0001017618" "0000459560" "0001017619" "0000459561" "0001017620" "0000459562" "0001017621" "0000459563" "0001017622" "0000459563" "0001017623" "0000459564" "0001017624" "0000471090" "0001059212"