Disorders of sex development
Gene: SOX9
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.
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. At least 14 variants reported in Campomelic dysplasia with autosomal sex reversal 114290Created: 12 Sep 2016, 1:24 p.m.
Comment on phenotypes: Variants also reported in Acampomelic campomelic dysplasia and Campomelic dysplasia both without sex reversal 114290Created: 12 Sep 2016, 1:23 p.m.
Testicular dysgenesis usually severe and associated with camptomelic dysplasia of the bones, as well as other skeletal findings (eg hypoplastic scapulae, small chest). May be milder changes and acamptomelic form. Disruption of promoter region may be associated with milder skeletal phenotype and upstream regulatory regions may be important. Also, upregulation of SOX9 or duplication found in 46,XX testicular DSD.Created: 4 Feb 2016, 2:15 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Testicular dysgenesis usually with camptomelic dysplasia
Promoted to V1 21/12/2016
This gene has been classified as Green List (High Evidence).
Phenotypes for SOX9 were set to Gender Assignment & Genital Anomalies and Suspected Adrenal Problems Gene Panels (UKGTN); Campomelic dysplasia with autosomal sex reversal, 114290
Phenotypes for SOX9 were set to Gender Assignment & Genital Anomalies and Suspected Adrenal Problems Gene Panels (UKGTN); Acampomelic campomelic dysplasia, Campomelic dysplasia, Campomelic dysplasia with autosomal sex reversal, 114290
Phenotypes for gene SOX9 were set to Gender Assignment & Genital Anomalies and Suspected Adrenal Problems Gene Panels (UKGTN); Acampomelic campomelic dysplasia, Campomelic dysplasia, Campomelic dysplasia with autosomal sex reversal, 114290
SOX9 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services
SOX9 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen
Model of inheritance for gene SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene SOX9 were set to Gender Assignment 13 Gene Panel (UKGTN); Genital Anomalies and Suspected Adrenal Problems 12 Gene Panel (UKGTN)
SOX9 was created by ellenmcdonagh
SOX9 was added to Disorders of sex developmentpanel. Sources: UKGTN