Deafness_IsolatedAndComplex
Gene: MYO6

MYO6 (myosin VI)
EnsemblGeneIds (GRCh38): ENSG00000196586
EnsemblGeneIds (GRCh37): ENSG00000196586
OMIM: 600970, Gene2Phenotype
MYO6 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Loss-of-function variants cause autosomal dominant progressive hearing loss with variable age of onset (childhood – 30s). Hypomorphic missense variants likely are only hearing loss-causing when in trans with a second variant. A family reported in Brownstein et al. 2014 (24105371) had in-frame exon 10 deletion and dominant, progressive hearing loss, with one homozygote with profound congenital HL. This supports MYO6 as dose-dependent.

Over 50 affected individuals reported and three mouse models. DEFINITIVE by ClinGen.

No distinction in mechanism between AD and AR disease exists for this gene-disease association, but bi-allelic variants cause more severe disease.
Created: 30 Sep 2020, 11:57 p.m. | Last Modified: 30 Sep 2020, 11:57 p.m.

Panel Version: 0.511

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal dominant 22, MIM# 606346; Deafness, autosomal recessive 37, MIM# 607821

Publications

Created: 30 Sep 2020, 11:57 p.m.
Last Modified: 30 Sep 2020, 11:57 p.m.
Panel version: 0.511

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

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

Phenotypes

Deafness, autosomal dominant 22, MIM# 606346
Deafness, autosomal recessive 37, MIM# 607821

OMIM

600970

Clinvar variants

Variants in MYO6

Penetrance

None

Publications

Panels with this gene