Deafness_Isolated
Gene: MYO7A

MYO7A (myosin VIIA)
EnsemblGeneIds (GRCh38): ENSG00000137474
EnsemblGeneIds (GRCh37): ENSG00000137474
OMIM: 276903, Gene2Phenotype
MYO7A is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 1 Oct 2020, 12:51 a.m.
Last Modified: 1 Oct 2020, 12:51 a.m.
Panel version: Imported from Deafness_IsolatedAndComplex panel version 0.518

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Melbourne Genomics Health Alliance Deafness Flagship
Melbourne Genomics Health Alliance Deafness Flagship
Victorian Clinical Genetics Services

Phenotypes

Deafness, autosomal dominant 11, MIM# 601317
Deafness, autosomal recessive 2, 600060
Usher syndrome, type 1B, MIM# 276900

OMIM

276903

Clinvar variants

Variants in MYO7A

Penetrance

None

Publications

Panels with this gene