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473 Possible Causes for STT3B, gene

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  • Familial Short QT Syndrome

    Although several gene mutations have been identified in SQT patients, the role of these mutations in promoting arrhythmogenesis is still not completely understood.[books.google.com] Rippling muscle disease T-cell immunodeficiency with epidermodysplasia verruciformis Catecholaminergic polymorphic ventricular tachycardia Leigh syndrome with leukodystrophy STT3B-CDG[csbg.cnb.csic.es] […] were compared with noncarriers (with the sexes studied both in combination and separately), and symptomatic gene carriers were compared with asymptomatic gene carriers.[nejm.org]

  • Hyperphosphatasia with Mental Retardation Syndrome 3

    Genes for Gene Perturbations dataset.[amp.pharm.mssm.edu] ZSWIM6, BUB1B, AP1S1, MPLKIP, GTF2H5, CA5A, PEPD, FAM126A, DHFR, COL4A2, PEX11B, POGZ, DDX3X, KAT6A, IGF1, COLEC11, HDAC4, SLC12A5, PIGT, RBM28, GPHN, SSR4, UBE3B, AIMP1, STT3B[mendelian.co] Order single gene PIGV Order this gene as a single gene test.[invitae.com]

  • Kenny-Caffey Syndrome Type 1

    ) Genetic syndromes with skeletal involvement (disease exome based NGS panel for 38 genes)[cgcgenetics.com] ACY1, SLC6A19, COQ4, RBCK1, CLDN16, CLDN19, FLNB, PEPD, GYG1, PEX11B, SLC7A9, FXYD2, UMPS, HGD, LCT, FMO3, SLC5A1, UROD, TRPM6, HMBS, PCK1, GPHN, CNNM2, SSR4, EGF, NGLY1, STT3B[mendelian.co] Gracile bone dysplasia ( GCLEB ; MIM 602361) and Kenny-Caffey syndrome, type 2 ( KCS2 ; MIM 127000) are autosomal dominant disorders caused by mutations in the FAM111A gene[ctgt.net]

  • Polymicrogyria

    Mutation analysis of the TUBB2B gene was performed.[ncbi.nlm.nih.gov] SMARCB1 , SMARCE1 , SMC1A , SMC3 , SMPD1 , SNORD118 , SOS1 , SOX10 , SOX11 , SPATA5 , SPTAN1 , SRD5A3 , SSR4 , ST3GAL3 , ST3GAL5 , STAMBP , STIL , STN1 , STRADA , STT3A , STT3B[humangenetik-tuebingen.de] RESULTS: A homozygous missense mutation (p.Asp783Val) in the phosphoinositide phosphatase gene FIG4 was identified.[ncbi.nlm.nih.gov]

  • Coffin-Siris Syndrome

    Together with the first cohort, 37 out of 71 (22 plus 49) patients were found to have a mutation in either one of five BAF complex genes.[ncbi.nlm.nih.gov] SMARCB1 , SMARCE1 , SMC1A , SMC3 , SMPD1 , SNORD118 , SOS1 , SOX10 , SOX11 , SPATA5 , SPTAN1 , SRD5A3 , SSR4 , ST3GAL3 , ST3GAL5 , STAMBP , STIL , STN1 , STRADA , STT3A , STT3B[humangenetik-tuebingen.de] Taken together with published data, these results indicate that haploinsufficiency of the ARID1B gene, which encodes an epigenetic modifier of chromatin structure, is an important[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy

    […] catalytic domain of the gene.[ncbi.nlm.nih.gov] SMARCB1 , SMARCE1 , SMC1A , SMC3 , SMPD1 , SNORD118 , SOS1 , SOX10 , SOX11 , SPATA5 , SPTAN1 , SRD5A3 , SSR4 , ST3GAL3 , ST3GAL5 , STAMBP , STIL , STN1 , STRADA , STT3A , STT3B[humangenetik-tuebingen.de] Mutation analysis of candidate genes mapped to the deletion revealed that four unrelated individuals with EIEE had heterozygous missense mutations in the gene encoding syntaxin[ncbi.nlm.nih.gov]

  • Hypoalphalipoproteinemia

    Results in this family formally exclude the apo AI-CIII-AIV gene cluster as the site for the mutation underlying FHA.[ncbi.nlm.nih.gov] Renale Glukosurie, hereditäre Form Renale Tubulopathie - Enzephalopathie - Leberversagen Riboflavin-Mangel, maternaler SLC35A1-CDG SLC35A2-CDG SRD5A3-CDG SSR4-CDG STT3A-CDG STT3B-CDG[se-atlas.de] […] dominance pattern at the major locus since none of a recessive, additive, or dominant hypothesis could be firmly rejected, these families provided clear evidence for a major gene[ncbi.nlm.nih.gov]

  • Spondylometaphyseal Dysplasia

    ) Metatropic dysplasia (p.R594H and p.P799L mutations on TRPV4 gene) Skeletal dysplasia (NGS panel for 31 genes) - Plus Spinal muscular atrophy (NGS panel for 21 genes) Limb[cgcgenetics.com] Disease or Group of diseases Estimated prevalence/incidence (/100,000) Number of published cases or families 137599 Stromal keratitis 16.0 P * 370921 STT3A-CDG 2 Cases 370924 STT3B-CDG[azkurs.org] Because of some similar radiographic features between SMDK and metatropic dysplasia, TRPV4 was tested as a disease gene for nonlethal metatropic dysplasia.[ncbi.nlm.nih.gov]

  • Iminoglycinuria

    […] solute carrier family 36 member 2 From NCBI Gene : This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein[ghr.nlm.nih.gov] ACY1, SLC6A19, COQ4, RBCK1, CLDN16, CLDN19, FLNB, PEPD, GYG1, PEX11B, SLC7A9, FXYD2, UMPS, HGD, LCT, FMO3, SLC5A1, UROD, TRPM6, HMBS, PCK1, GPHN, CNNM2, SSR4, EGF, NGLY1, STT3B[mendelian.co] genes.[ncbi.nlm.nih.gov]

  • Benign Adult Familial Myoclonic Epilepsy

    It showed significant homology to two genes, CSMD1 gene on 8p23 and CSMD2 gene on 1p34, at reduced amino acid sequence level and hence we designated as CSMD3.[ncbi.nlm.nih.gov] SMARCB1 , SMARCE1 , SMC1A , SMC3 , SMPD1 , SNORD118 , SOS1 , SOX10 , SOX11 , SPATA5 , SPTAN1 , SRD5A3 , SSR4 , ST3GAL3 , ST3GAL5 , STAMBP , STIL , STN1 , STRADA , STT3A , STT3B[humangenetik-tuebingen.de] We recently assigned the gene locus to chromosome 8q23.3-q24.11 by linkage analysis.[ncbi.nlm.nih.gov]

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