Disorders of sex development

Gene: SOX10

Green List (high evidence)

SOX10 (SRY-box 10)
EnsemblGeneIds (GRCh38): ENSG00000100146
EnsemblGeneIds (GRCh37): ENSG00000100146
OMIM: 602229, Gene2Phenotype
SOX10 is in 17 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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, 611584
Created: 21 Sep 2016, 2:17 p.m.

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