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Intellectual disability syndromic and non-syndromic

Gene: MYO7A

Red List (low evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

ID not part of these conditions.
Created: 5 Dec 2019, 2:25 a.m. | Last Modified: 5 Dec 2019, 2:25 a.m.
Panel Version: 0.460

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal dominant 11, OMIM #601317; Deafness, autosomal recessive 2, OMIM #600060; Usher syndrome, type 1B, OMIM #276900

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Deafness, autosomal dominant 11, OMIM #601317
  • Deafness, autosomal recessive 2, OMIM #600060
  • Usher syndrome, type 1B, OMIM #276900
OMIM
276903
Clinvar variants
Variants in MYO7A
Penetrance
None
Panels with this gene

History Filter Activity

5 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myo7a has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: myo7a has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from MYO7A. Source Expert list was added to MYO7A. Mode of inheritance for gene MYO7A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYO7A were changed from to Deafness, autosomal dominant 11, OMIM #601317; Deafness, autosomal recessive 2, OMIM #600060; Usher syndrome, type 1B, OMIM #276900

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MYO7A was set to Unknown