Monogenic hearing loss
Gene: MYH14New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:55 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:54 p.m.
Phenotypes for MYH14 were set to Nonsyndromic Hearing Loss, Dominant; Deafness, autosomal dominant 4A, 600652; ?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369
Publications for MYH14 were set to PMID:12909352; 14594953; 15015131; 15845534; 16222661; 21480433
Mode of inheritance for MYH14 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene MYH14 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene MYH14 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene MYH14 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Model of inheritance for gene MYH14 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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