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  2. Congenital muscular dystrophy and congenital myopathy
  3. MYH14
STRs in panel
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Congenital muscular dystrophy and 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 7 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

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.69

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

Created: 31 Jan 2017, 10:33 a.m.

Copied from panel: Congenital myopathy v3.69

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, OMIM:614369
OMIM
608568
Clinvar variants
Variants in MYH14
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: MYH14 was added gene: MYH14 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH14 were set to 21480433; 27875632 Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, OMIM:614369 Penetrance for gene: MYH14 were set to Complete