Skeletal Dysplasia_Fetal
Gene: SOX9

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

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Features include prenatal onset dwarfism. >10 patients reported. Variable penetrance reported for XY sex reversal.
Created: 22 Feb 2022, 12:49 a.m. | Last Modified: 22 Feb 2022, 12:49 a.m.

Panel Version: 0.3856

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Campomelic dysplasia with autosomal sex reversal (MIM#114290); Campomelic dysplasia (MIM#114290); Acampomelic campomelic dysplasia (MIM#114290)

Publications

9002675

Created: 22 Feb 2022, 12:49 a.m.
Last Modified: 22 Feb 2022, 12:49 a.m.
Panel version: Imported from Fetal anomalies panel version 0.3856

Details

Mode of Inheritance

Unknown

Sources

Victorian Clinical Genetics Services
Expert Review Green
Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

OMIM

608160

Clinvar variants

Variants in SOX9

Penetrance

None

Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOX9 was added gene: SOX9 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOX9 was set to Unknown

Skeletal Dysplasia_Fetal Gene: SOX9