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Deafness_IsolatedAndComplex

Gene: MYO7A

Green List (high evidence)

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

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 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

History Filter Activity

1 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myo7a has been classified as Green List (High Evidence).

1 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYO7A were changed from to Deafness, autosomal dominant 11, MIM# 601317; Deafness, autosomal recessive 2, 600060; Usher syndrome, type 1B, MIM# 276900

1 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYO7A were set to

1 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYO7A 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: MYO7A was added gene: MYO7A 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: MYO7A was set to Unknown