Deafness_IsolatedAndComplex
Gene: MYO7A
Over 50 individuals reported with mono-allelic variants and isolated deafness, supported by evidence mouse model.
Bi-allelic variants are generally associated with Usher syndrome, >3 families reported. Note that in at least one of the families initially reported as having isolated deafness caused by bi-allelic variants in this gene, further phenotypic identified retinal abnormalities, PMID 11391666.
Both associations rated as DEFINITIVE by ClinGen.Created: 1 Oct 2020, 12:51 a.m. | Last Modified: 1 Oct 2020, 12:51 a.m.
Panel Version: 0.518
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal dominant 11, MIM# 601317; Deafness, autosomal recessive 2, 600060; Usher syndrome, type 1B, MIM# 276900
Publications
Gene: myo7a has been classified as Green List (High Evidence).
Phenotypes for gene: MYO7A were changed from to Deafness, autosomal dominant 11, MIM# 601317; Deafness, autosomal recessive 2, 600060; Usher syndrome, type 1B, MIM# 276900
Publications for gene: MYO7A were set to
Mode of inheritance for gene: MYO7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: MYO7A was added gene: MYO7A 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: MYO7A was set to Unknown