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Deafness_IsolatedAndComplex

Gene: MYO3A

Green List (high evidence)

MYO3A (myosin IIIA)
EnsemblGeneIds (GRCh38): ENSG00000095777
EnsemblGeneIds (GRCh37): ENSG00000095777
OMIM: 606808, Gene2Phenotype
MYO3A is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

19 Feb 2024, Gel status: 3

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

4 Mar 2021, Gel status: 3

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

4 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYO3A were set to 21165622; 26754646; 23990876

4 Mar 2021, Gel status: 3

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

24 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myo3a has been classified as Green List (High Evidence).

24 Jan 2020, Gel status: 3

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

24 Jan 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYO3A were changed from to Deafness, autosomal recessive 30, MIM# 607101

24 Jan 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYO3A were set to

24 Jan 2020, Gel status: 3

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

17 Nov 2019, Gel status: 3

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