Autism

Gene: SOX5

Green List (high evidence)

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

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

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
Panels with this gene

History Filter Activity

30 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox5 has been classified as Green List (High Evidence).

30 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOX5 were changed from Lamb-Shaffer syndrome, MIM#616803 to Lamb-Shaffer syndrome, MIM#616803

30 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOX5 were changed from to Lamb-Shaffer syndrome, MIM#616803

30 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOX5 were set to 31578471

30 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOX5 were set to

30 Jan 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOX5 was added gene: SOX5 was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SOX5 was set to Unknown