Hereditary Neuropathy - complex
Gene: MYH14EnsemblGeneIds (GRCh38): ENSG00000105357
EnsemblGeneIds (GRCh37): ENSG00000105357
OMIM: 608568, Gene2Phenotype
MYH14 is in 6 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Unlikely founder.Created: 12 Aug 2022, 5:47 a.m. | Last Modified: 12 Aug 2022, 5:47 a.m.
Panel Version: 0.130
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369
Elena Savva (Victorian Clinical Genetics Services)
PMID: 21480433 - 1 large Korean fam with peripheral neuropathy, myopathy, hoarseness, and hearing loss. Missense variant (p.R941L) found to segregate in all affecteds, but not all presented with hearing loss.
PMID: 35274842 - same authors as PMID: 21480433, report a second Korean family with a similar presentation to the first and the missense p.R941L.
- Reviews literature reporting an additional 2 families (American, Canadian) with this same p.R941L variant, who presented with distal HMN and hearing loss or CMT with hearing loss (PMID:31231018;27875632). These multigenerational families were Caucasian or not described, with no de novo evidence shown. Authors speculate recurrence due to the broad geographical location where families have been described.
Single recurring missense appears to be responsible for this phenotypeCreated: 12 Aug 2022, 5:42 a.m. | Last Modified: 12 Aug 2022, 5:42 a.m.
Panel Version: 0.130
PMID: 21480433 - 1 large Korean fam with peripheral neuropathy, myopathy, hoarseness, and hearing loss. Missense variant (p.R941L) found to segregate in all affecteds, but not all presented with hearing loss.
PMID: 35274842 - same authors as PMID: 21480433, report a second Korean family with a similar presentation to the first and the missense p.R941L.
- Reviews literature reporting an additional 2 families (American, Canadian) with this same p.R941L variant, who presented with distal HMN and hearing loss or CMT with hearing loss
- DN mechanism speculated
Single recurring missense appears to be responsible for this phenotypeCreated: 12 Aug 2022, 1:10 a.m. | Last Modified: 12 Aug 2022, 1:10 a.m.
Panel Version: 0.130
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369
- OMIM
- 608568
- Clinvar variants
- Variants in MYH14
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: myh14 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: MYH14 were changed from ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; HMSN to Peripheral neuropathy, myopathy, hoarseness, and hearing loss MIM#614369
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: MYH14 were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: MYH14 was added gene: MYH14 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH14 were set to ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369; HMSN