Deafness_IsolatedAndComplex
Gene: ACTB
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser-Winter syndrome 1, MIM# 243310; Dystonia, juvenile-onset, MIM# 607371
BWS - gain of function (missense mutations), deafness dystonia - described in 6 individual cases all with same mutation p.Arg183TrpCreated: 30 Dec 2019, 10:43 a.m. | Last Modified: 30 Dec 2019, 10:43 a.m.
Panel Version: 0.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Baraitser-Winter syndrome; Deafness-dystonia syndrome
Publications
Mode of pathogenicity
Other
Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome; Deafness-dystonia syndrome to Baraitser-Winter syndrome 1, MIM# 243310; Dystonia, juvenile-onset, MIM# 607371
Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome; Deafness-dystonia syndrome to Baraitser-Winter syndrome; Deafness-dystonia syndrome
Gene: actb has been classified as Green List (High Evidence).
Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome; Deafness-dystonia syndrome
Publications for gene: ACTB were set to
Mode of pathogenicity for gene: ACTB was changed from to Other
Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: ACTB was added gene: ACTB 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: ACTB was set to Unknown