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Mendeliome

Gene: MYO3A

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families and animal model data support association between bi-allelic variants and deafness.

Limited/moderate evidence for association between mono-allelic variants and deafness.
Created: 4 Mar 2021, 5:47 a.m. | Last Modified: 4 Mar 2021, 5:47 a.m.
Panel Version: 0.6544

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 30, MIM# 607101; Deafness, autosomal dominant 90, MIM# 620722

Publications

Eleanor Williams (Genomics England)

Green List (high evidence)

PMID: 33078831 - Wonkam et al 2020 - report 3 additional cases of patients from Cameroon with autosomal recessive non-syndromic hearing loss, who all have the same homozygous variant c.C424T, p.H142Y in MYO3A. This variant is found at low frequency in ExAC (AFR, ASI) populations and was not found in 129 healthy controls from Cameroon.

Wonkam et al also note that 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).
Created: 3 Mar 2021, 12:50 p.m. | Last Modified: 3 Mar 2021, 12:50 p.m.
Panel Version: 0.6539

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 30 OMIM:607101; autosomal recessive nonsyndromic deafness 30 MONDO:0011774

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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 OMIM:607101; autosomal recessive nonsyndromic deafness 30 MONDO:0011774; dominant deafness to Deafness, autosomal recessive 30, MIM# 607101; Deafness, autosomal dominant 90, MIM# 620722

16 May 2022, 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).

4 Mar 2021, 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 OMIM:607101; autosomal recessive nonsyndromic deafness 30 MONDO:0011774; 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

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 Unknown to BOTH monoallelic and 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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYO3A was set to Unknown