Monogenic hearing loss
Gene: MYH14EnsemblGeneIds (GRCh38): ENSG00000105357
EnsemblGeneIds (GRCh37): ENSG00000105357
OMIM: 608568, Gene2Phenotype
MYH14 is in 7 panels
5 reviews
Ellen McDonagh (Genomics England Curator)
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:55 p.m.
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#600652:Deafness, autosomal dominant 4A[Hearing loss, sensorineural, progressive]; #614369:?Peripheral neuropathy, myopathy, hoarseness, and hearing loss[Deafness, sensorineural (45%); Foot deformities; Distal muscle weakness (first affects anterior leg muscles, then posterior leg muscles)Distal muscle atrophy (lower limbs more affected than upper limbs)Proximal weakness of the lower limbs with longer disease durationMRI shows fatty replacementMuscle biopsy shows small rounded fibersDegenerating fibersEndomysial fibrosisVariation of fiber size and shapeFiber-type groupingSubsarcolemmal accumulation of enlarged mitochondria with variably sized rectangular or elongated rhomboidal paracrystalline inclusions; Tremor (3 patients); AreflexiaHyporeflexiaNerve conduction studies show mildly reduced or normal sensory valuesPeroneal nerves show severely reduced CMAPs; Hoarseness (53%); Mildly increased serum creatine kinase]
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:54 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Nonsyndromic Hearing Loss, Dominant
- Deafness, autosomal dominant 4A, 600652
- ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
- OMIM
- 608568
- Clinvar variants
- Variants in MYH14
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for MYH14 were set to Nonsyndromic Hearing Loss, Dominant; Deafness, autosomal dominant 4A, 600652; ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MYH14 were set to PMID:12909352; 14594953; 15015131; 15845534; 16222661; 21480433
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for MYH14 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYH14 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MYH14 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYH14 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MYH14 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYH14 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MYH14 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYH14 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)MYH14 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Added New Source
Ellen McDonagh (Genomics England Curator)MYH14 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert