Deafness_IsolatedAndComplex
Gene: MYO3AEnsemblGeneIds (GRCh38): ENSG00000095777
EnsemblGeneIds (GRCh37): ENSG00000095777
OMIM: 606808, Gene2Phenotype
MYO3A is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple families and animal model data support association of bi-allelic variants and deafness.
Variants in this gene has also been associated with autosomal dominant hearing loss in an African American family (PMID: 26841241 Grati et al 2016) and 2 large, remotely-related Brazilian families (PMID: 29880844 - Dantas et al 2018, same variant reported in the 2 families): association of mono-allelic variants with deafness is limited/moderate.Created: 31 Dec 2019, 1:50 a.m. | Last Modified: 4 Mar 2021, 5:50 a.m.
Panel Version: 1.53
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 30, MIM# 607101; Deafness, autosomal dominant 90, MIM# 620722
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Deafness, autosomal recessive 30, MIM# 607101
- Deafness, autosomal dominant 90, MIM# 620722
- OMIM
- 606808
- Clinvar variants
- Variants in MYO3A
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MYO3A were changed from Deafness, autosomal recessive 30, MIM# 607101; dominant deafness to Deafness, autosomal recessive 30, MIM# 607101; Deafness, autosomal dominant 90, MIM# 620722
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MYO3A were changed from Deafness, autosomal recessive 30, MIM# 607101 to Deafness, autosomal recessive 30, MIM# 607101; dominant deafness
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MYO3A were set to 21165622; 26754646; 23990876
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MYO3A was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myo3a has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MYO3A were changed from Deafness, autosomal recessive 30, MIM# 607101 to Deafness, autosomal recessive 30, MIM# 607101
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MYO3A were changed from to Deafness, autosomal recessive 30, MIM# 607101
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MYO3A were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: MYO3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: MYO3A was added gene: MYO3A 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: MYO3A was set to Unknown