Deafness_IsolatedAndComplex
Gene: MITF
PMID 32728090: two families reported with bi-allelic variants and isolated deafness.Created: 28 Dec 2020, 8:28 a.m. | Last Modified: 28 Dec 2020, 8:28 a.m.
Panel Version: 1.40
Waardenburg syndrome: Well established gene-disease association, multiple families and animal models.Created: 30 Sep 2020, 10:48 p.m. | Last Modified: 28 Dec 2020, 8:30 a.m.
Panel Version: 1.43
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Waardenburg syndrome, type 2A, MIM# 193510; Deafness
Publications
Phenotypes for gene: MITF were changed from Waardenburg syndrome, type 2A, MIM# 193510 to Waardenburg syndrome, type 2A, MIM# 193510; Deafness
Publications for gene: MITF were set to 7874167; 23512835; 27759048; 28356565; 9499424; 27349893
Mode of inheritance for gene: MITF was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: mitf has been classified as Green List (High Evidence).
Phenotypes for gene: MITF were changed from to Waardenburg syndrome, type 2A, MIM# 193510
Publications for gene: MITF were set to
Mode of inheritance for gene: MITF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: MITF was added gene: MITF 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: MITF was set to Unknown