Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: MYH14Comment 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
Hearing loss, myopathy, deafnessCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Publications
Gene: myh14 has been classified as Red List (Low Evidence).
Gene: myh14 has been classified as Red List (Low Evidence).
Source NHS GMS was added to MYH14.
Source Yorkshire and North East GLH was added to MYH14.
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
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