Differences in sex development

Gene: SOX9

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.

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 114290

Created: 12 Sep 2016, 1:24 p.m.

Comment on phenotypes: Variants also reported in Acampomelic campomelic dysplasia and Campomelic dysplasia both without sex reversal 114290

Created: 12 Sep 2016, 1:23 p.m.

Green List (high evidence)

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