Deafness_IsolatedAndComplex
Gene: SOX2
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
Gene: sox2 has been classified as Amber List (Moderate Evidence).
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
Phenotypes for gene: SOX2 were changed from to Anopthalmia and sensorineural hearing loss; Microphthalmia, syndromic 3 206900
Publications for gene: SOX2 were set to 30262714; 16932809; 16145681
Publications for gene: SOX2 were set to
Mode of inheritance for gene: SOX2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: SOX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: sox2 has been classified as Amber List (Moderate Evidence).
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