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  2. Structural eye disease
  3. MYO7A
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Structural eye disease

Gene: MYO7A

Red List (low evidence)
MYO7A (myosin VIIA)
EnsemblGeneIds (GRCh38): ENSG00000137474
EnsemblGeneIds (GRCh37): ENSG00000137474
OMIM: 276903, Gene2Phenotype
MYO7A is in 11 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 1B; Deafness, autosomal recessive 2; Deafness, autosomal dominant 11; 276900; 601317

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type 1B, 276900; Deafness, autosomal recessive 2; Deafness, autosomal dominant 11, 601317

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • Deafness, autosomal recessive 2
  • Usher syndrome, type 1B, 276900
  • Deafness, autosomal dominant 11, 601317
  • Eye Disorders
OMIM
276903
Clinvar variants
Variants in MYO7A
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MYO7A. Mode of inheritance for gene MYO7A was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Deafness, autosomal recessive 2; Usher syndrome, type 1B, 276900; Deafness, autosomal dominant 11, 601317 for gene: MYO7A

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: MYO7A was added gene: MYO7A was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: MYO7A was set to Phenotypes for gene: MYO7A were set to Eye Disorders