Retinal disorders
Gene: MYO7AEnsemblGeneIds (GRCh38): ENSG00000137474
EnsemblGeneIds (GRCh37): ENSG00000137474
OMIM: 276903, Gene2Phenotype
MYO7A is in 11 panels
3 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal dominant 11 (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown); Deafness, autosomal recessive 2 (BIALLELIC, autosomal or pseudoautosomal); Usher syndrome, type 1B (BIALLELIC, autosomal or pseudoautosomal)
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:04 a.m.
Comment on mode of inheritance: Biallelic for Usher Syndrome, type 1B (Source: OMIM and G2P).Created: 22 Mar 2016, 1:23 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Usher syndrome, type 1B, OMIM:276900
- OMIM
- 276903
- Clinvar variants
- Variants in MYO7A
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MYO7A were changed from Eye Disorders to Usher syndrome, type 1B, OMIM:276900
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to MYO7A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MYO7A was changed to BIALLELIC, autosomal or pseudoautosomal
Created
Ellen McDonagh (Genomics England Curator)MYO7A was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)MYO7A was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green