Congenital myopathy
Gene: MYH14
Comment when marking as ready: Two families reported with a neuropathy / myopathy phenotype (Korean and US Caucasian). Childhood onset hereditary motor neuropathy picture. Currently insufficient evidence and phenotype not typical for congenital myopathy.Created: 3 Feb 2017, 12:20 p.m.
Two families reported with a neuropathy / myopathy phenotype (Korean and US Caucasian). Childhood onset hereditary motor neuropathy picture. Currently insufficient evidence and phenotype not typical for congenital myopathy.Created: 31 Jan 2017, 10:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Deafness, autosomal dominant 4A 600652
Publications
Phenotypes for gene: MYH14 were changed from ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Deafness, autosomal dominant 4A 600652 to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Red List (Low Evidence).
Phenotypes for MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Deafness, autosomal dominant 4A 600652
Publications for MYH14 were set to 21480433; 27875632
Mode of inheritance for MYH14 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYH14 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen