Differences in sex development
Gene: SOX10
SOX10 (SRY-box 10)
EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Apr 2019, 9:46 a.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM and G2P. Found in 1/4 sources. One reviewer recommends Green on idiopathic hypogonadotrophic hypogonadism. Six pathogenic variants found in unrelated Kallmanns with deafness patients (in vitro evidence provided)(PMID 23643381)Created: 21 Sep 2016, 2:21 p.m.
Comment on phenotypes: Other associated phenotypes: PCWH syndrome, 609136; Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584Created: 21 Sep 2016, 2:17 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Waardenburg syndrome, type 4C 613266
- OMIM
- 602229
- Clinvar variants
- Variants in SOX10
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Hypogonadotropic hypogonadism (GMS)
- Deafness and congenital structural abnormalities
- DDG2P
- Gastrointestinal neuromuscular disorders
- Inherited white matter disorders
- Differences in sex development
- Pigmentary skin disorders
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Hereditary neuropathy or pain disorder
- Hypogonadotropic hypogonadism
- Monogenic hearing loss
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
History Filter Activity
21 Dec 2016, Gel status: 3
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to V1 21/12/2016
21 Sep 2016, Gel status: 3
Upload gene information
Sarah Leigh (Genomics England Curator)SOX10 was added to Disorders of sex developmentpanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
21 Sep 2016, Gel status: 0
Set publications
Sarah Leigh (Genomics England Curator)Publications for SOX10 were set to 2364338
21 Sep 2016, Gel status: 0
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SOX10 were set to Waardenburg syndrome, type 4C 613266
25 May 2016, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)SOX10 was added to Disorders of sex developmentpanel. Sources:
25 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SOX10 was created by sleigh