Limb girdle muscular dystrophy

Gene: MYH14

Red List (low evidence)

MYH14 (myosin heavy chain 14)
EnsemblGeneIds (GRCh38): ENSG00000105357
EnsemblGeneIds (GRCh37): ENSG00000105357
OMIM: 608568, Gene2Phenotype
MYH14 is in 8 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 4:49 p.m. | Last Modified: 28 Nov 2019, 4:49 p.m.
Panel Version: 1.140

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

Hearing loss, myopathy, deafness
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
OMIM
608568
Clinvar variants
Variants in MYH14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: myh14 has been classified as Red List (Low Evidence).

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: myh14 has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYH14.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to MYH14.

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene MYH14 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 for gene: MYH14 Publications for gene MYH14 were changed from to 21480433

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MYH14 was added gene: MYH14 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: MYH14 was set to