Disorders of sex development

Gene: SOX9

Green List (high evidence)

SOX9 (SRY-box 9)
EnsemblGeneIds (GRCh38): ENSG00000125398
EnsemblGeneIds (GRCh37): ENSG00000125398
OMIM: 608160, Gene2Phenotype
SOX9 is in 11 panels

3 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)

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.

John Achermann (UCL Institute of Child Health)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Gender Assignment & Genital Anomalies and Suspected Adrenal Problems Gene Panels (UKGTN)
  • Campomelic dysplasia with autosomal sex reversal, 114290
OMIM
608160
Clinvar variants
Variants in SOX9
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 21/12/2016

12 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Sep 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SOX9 were set to Gender Assignment & Genital Anomalies and Suspected Adrenal Problems Gene Panels (UKGTN); Campomelic dysplasia with autosomal sex reversal, 114290

12 Sep 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

20 May 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

20 May 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

SOX9 was added to Disorders of sex developmentpanel. Source: Illumina TruGenome Clinical Sequencing Services

20 May 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

SOX9 was added to Disorders of sex developmentpanel. Source: Radboud University Medical Center, Nijmegen

20 May 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Jan 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene SOX9 were set to Gender Assignment 13 Gene Panel (UKGTN); Genital Anomalies and Suspected Adrenal Problems 12 Gene Panel (UKGTN)

11 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SOX9 was created by ellenmcdonagh

11 Jan 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SOX9 was added to Disorders of sex developmentpanel. Sources: UKGTN