Autism
Gene: SOX5

SOX5 (SRY-box 5)
EnsemblGeneIds (GRCh38): ENSG00000134532
EnsemblGeneIds (GRCh37): ENSG00000134532
OMIM: 604975, Gene2Phenotype
SOX5 is in 5 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Note many cases reported of intragenic deletion.
Created: 30 Jan 2020, 11:57 p.m. | Last Modified: 30 Jan 2020, 11:57 p.m.

Panel Version: 0.51

Created: 30 Jan 2020, 11:57 p.m.
Last Modified: 30 Jan 2020, 11:57 p.m.
Panel version: 0.51

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Variants are generally de novo, but inheritance from affected and/or mosaic parents have been reported
Created: 30 Jan 2020, 10:10 p.m. | Last Modified: 30 Jan 2020, 10:10 p.m.

Panel Version: 0.43

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Lamb-Shaffer syndrome

Publications

PMID: 31578471

Created: 30 Jan 2020, 10:10 p.m.
Last Modified: 30 Jan 2020, 10:10 p.m.
Panel version: 0.43

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Lamb-Shaffer syndrome, MIM#616803

OMIM

604975

Clinvar variants

Variants in SOX5

Penetrance

None

Publications

31578471

Panels with this gene