Deafness_IsolatedAndComplex
Gene: GJB3
Association with AD deafness has been disputed as the variants originally reported are present at high frequency in the population. ClinGen assessed as DISPUTED.Created: 31 Dec 2019, 1:04 a.m. | Last Modified: 31 Dec 2019, 1:04 a.m.
Panel Version: 0.61
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Deafness, autosomal dominant 2B, MIM# 612644
Publications
Phenotypes for gene: GJB3 were changed from Deafness, autosomal dominant 2B, MIM# 612644 to Deafness, autosomal dominant 2B, MIM# 612644
Gene: gjb3 has been classified as Red List (Low Evidence).
Publications for gene: GJB3 were set to 9843210
Phenotypes for gene: GJB3 were changed from to Deafness, autosomal dominant 2B, MIM# 612644
Publications for gene: GJB3 were set to
Mode of inheritance for gene: GJB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: gjb3 has been classified as Red List (Low Evidence).
gene: GJB3 was added gene: GJB3 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: GJB3 was set to Unknown