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Deafness_IsolatedAndComplex
Gene: SOX2

SOX2 (SRY-box 2)
EnsemblGeneIds (GRCh38): ENSG00000181449
EnsemblGeneIds (GRCh37): ENSG00000181449
OMIM: 184429, Gene2Phenotype
SOX2 is in 13 panels

1 review

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

3 individuals with deafness as part of the phenotype but the majority do not have hearing loss. Mouse models but can't find evidence that hearing was studied.
Created: 28 Jan 2020, 11:27 p.m. | Last Modified: 28 Jan 2020, 11:27 p.m.

Panel Version: 0.262

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Anopthalmia and sensorineural hearing loss

Publications

Created: 28 Jan 2020, 11:27 p.m.
Last Modified: 28 Jan 2020, 11:27 p.m.
Panel version: 0.262

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Anopthalmia and sensorineural hearing loss
Microphthalmia, syndromic 3 206900

OMIM

Clinvar variants

Variants in SOX2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

29 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox2 has been classified as Amber List (Moderate Evidence).

29 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOX2 were changed from Anopthalmia and sensorineural hearing loss; Microphthalmia, syndromic 3 206900 to Anopthalmia and sensorineural hearing loss; Microphthalmia, syndromic 3 206900

29 Jan 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SOX2 were changed from to Anopthalmia and sensorineural hearing loss; Microphthalmia, syndromic 3 206900

29 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOX2 were set to 30262714; 16932809; 16145681

29 Jan 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SOX2 were set to

29 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SOX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jan 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sox2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SOX2 was added gene: SOX2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: SOX2 was set to Unknown