SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Disease: Waardenburg Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II. 30628718 2019
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE This is the first truncating mutation in exon 3 of SOX10 that is associated with neurological symptoms in Waardenburg syndrome. 29792164 2018
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Abnormalities in SOX10 are associated with Waardenburg syndrome Types II and IV, and these patients have recognizable clinical features. 29216801 2018
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Human SOX10 mutations lead to various diseases including Waardenburg syndrome, Hirschsprung disease, peripheral demyelinating neuropathy, central leukodystrophy, Kallmann syndrome and various combinations thereof. 29361054 2018
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND The mutation is associated with distinctive phenotypic profile (association of anosmia and chronic constipation with SOX10 mutations) and could further improve diagnosis and counseling of WS in the Iranian population and can contribute to phenotype-directed genetic analysis. 28390600 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE While type I is tightly associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases. 28236341 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE SOX10 mutations are usually associated with a more severe phenotype of WS with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, and Hirschsprung disease. 28544110 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE The mutation is associated with distinctive phenotypic profile (association of anosmia and chronic constipation with SOX10 mutations) and could further improve diagnosis and counseling of WS in the Iranian population and can contribute to phenotype-directed genetic analysis. 28390600 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II. 28893539 2017
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 Biomarker disease BEFREE Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). 27562378 2016
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Our result conform the thesis that heterozygous deletions at SOX10 is an important pathogenicity for WS, and present as autosomal dominant inheritance. 26296878 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Mutations in SOX10, one of the genes contributing to syndromic hearing loss, induce a large range of phenotypes, including several subtypes of Waardenburg syndrome and Kallmann syndrome with deafness. 25256313 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Molecular analysis detected a de novo p.Leu145Pro mutation in SOX10, which has previously been reported in a patient with WS and Hirschsprung disease. 26228106 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 Biomarker disease BEFREE Many genes have been linked to WS, including PAX3, MITF, SNAI2, EDNRB, EDN3, and SOX10, and many additional genes have been associated with disorders with phenotypic overlap with WS. 25932447 2015
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Chronic constipation may be recognized as indicative of a SOX10 mutation in patients with Waardenburg syndrome. 24582978 2014
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GermlineCausalMutation disease ORPHANET In addition, mutations in SOX10 are also responsible for an extended syndrome involving peripheral and central neurological phenotypes, referred to as PCWH (peripheral demyelinating neuropathy, central dysmyelinating leucodystrophy, Waardenburg syndrome, Hirschsprung disease). 24311220 2014
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 Biomarker disease BEFREE This study adds to the existing body of knowledge by characterizing a 2.4 Mb deletion [arr[hg19] 22q12.3-q13.1 (36467502-38878207)x1] encompassing SOX10 and 53 additional RefSeq genes in a 15-year-old female with atypical WS. 24715709 2014
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE The novel heterozygous c.259-260delCT mutation in the SOX10 gene was considered to be the cause of Waardenburg syndrome in the proband. 24735604 2014
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE SOX10 mutations have been found in patients with type II and type IV WS (i.e., with Hirschsprung disease), more complex syndromes, and partial forms of the disease. 24845202 2014
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE It has been implicated in Waardenburg syndrome (WS), a rare disorder characterized by the association between pigmentation abnormalities and deafness, but SOX10 mutations cause a variable phenotype that spreads over the initial limits of the syndrome definition. 23643381 2013
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Fifteen patients with Waardenburg syndrome and different SOX10 mutations were studied retrospectively. 23237859 2013
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Lately it has been suggested that whole SOX10 gene deletions can be encountered when testing for WS. 22842075 2012
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE Recently, we identified some novel WS-associated mutations in PAX3 and SOX10 in a cohort of Chinese WS patients. 21965087 2012
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GermlineCausalMutation disease ORPHANET Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4. 22378281 2012
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 GeneticVariation disease BEFREE The recent identification of a deletion encompassing three of the SOX10 regulatory elements in a patient presenting with another WS subtype, WS4, defined by its association with Hirschsprung disease, led us to search for deletions and point mutations within the MITF and SOX10 regulatory elements in 28 yet unexplained WS2 cases. 22848661 2012