Congenital myopathy

Gene: MYH14

Red List (low evidence)

MYH14 (myosin heavy chain 14)
EnsemblGeneIds (GRCh38): ENSG00000105357
EnsemblGeneIds (GRCh37): ENSG00000105357
OMIM: 608568, Gene2Phenotype
MYH14 is in 9 panels

2 reviews

Anna Sarkozy (Great Ormond Street Hospital)

I don't know

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

Helen Brittain (Genomics England Curator)

Red List (low evidence)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369
  • Deafness, autosomal dominant 4A 600652
OMIM
608568
Clinvar variants
Variants in MYH14
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 1

panel promoted to version 1

Helen Brittain (Genomics England Curator)

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.

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Deafness, autosomal dominant 4A 600652

3 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for MYH14 were set to 21480433; 27875632

3 Feb 2017, Gel status: 1

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for MYH14 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MYH14 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen