GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: SOX9

SOX9 (SRY-box 9)
EnsemblGeneIds (GRCh38): ENSG00000125398
EnsemblGeneIds (GRCh37): ENSG00000125398
OMIM: 608160, Gene2Phenotype
SOX9 is in 10 panels

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Campomelic dysplasia and related disorders gp of SD, brachydactylies (without extraskeletal manifestations) gp of SD. Several cases. translocations with breakpts upstream of gene,deletions upstream of gene, LOF in gene; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Acampomelic campomelic dysplasia 114290; Campomelic dysplasia 114290; Campomelic dysplasia with autosomal sex reversal 114290

Mode of pathogenicity
Other - please provide details in the comments

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Campomelic dysplasia with autosomal sex reversal 114290
Acampomelic campomelic dysplasia 114290
Campomelic dysplasia 114290

OMIM

608160

Clinvar variants

Variants in SOX9

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SOX9 was added gene: SOX9 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SOX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOX9 were set to Campomelic dysplasia with autosomal sex reversal 114290; Acampomelic campomelic dysplasia 114290; Campomelic dysplasia 114290

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: SOX9