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Usher Syndrome

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)

DEFINITIVE by ClinGen, multiple families reported. Note mono-allelic variants associated with isolated deafness. Some reports of families with bi-allelic variants and isolated deafness, but note that in at least one of these families, further phenotypic identified retinal abnormalities, PMID 11391666.
Created: 1 Oct 2020, 12:58 a.m. | Last Modified: 1 Oct 2020, 12:58 a.m.
Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 1B, MIM# 276900

Publications

Created: 1 Oct 2020, 12:58 a.m.
Last Modified: 1 Oct 2020, 12:58 a.m.
Panel version: 0.15

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 publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYO7A were set to

14 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: MYO7A was added gene: MYO7A was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO7A were set to Usher syndrome, type 1B, 276900