Monogenic hearing loss
Gene: MYO6
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
#606346:Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy[Hearing loss, sensorineural, progressive (moderate to profound)]; #607821:Deafness, autosomal recessive 37[Hearing loss, sensorineural, bilateral (severe to profound)Vestibular dysfunction (in 2 patients); Retinitis pigmentosa (in 1 patient)Congenital stationary night blindness (in 1 patient)]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:05 p.m.
Comment on mode of inheritance: Evidence from OMIM suggests both as wellCreated: 29 Jan 2016, 4:05 p.m.
semi-dominant mode of inheritanceCreated: 19 Oct 2015, 5:41 p.m.
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:53 p.m.
Both recessive and dominant forms of nonsyndromic hearing loss are reported by Illumina for this gene.Created: 2 Jul 2015, 7:51 a.m.
Phenotypes for MYO6 were set to Nonsyndromic Hearing Loss, Dominant; Deafness, autosomal dominant 22, 606346; Nonsyndromic Hearing Loss, Recessive; #606346:Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy; #607821:Deafness, autosomal recessive 37
Publications for MYO6 were set to PMID:10519557; 11167014; 11468689; 11707568; 12134162; 12687499; 12966030; 15006355; 15060111; 15123708; 15721263; 15944696; 16908842; 16949370; 18212818; 18348273; 19417007; 19744958; 7493015; 7929586; 8884266; 9259267
This gene has been classified as Green List (High Evidence).
Mode of inheritance for MYO6 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene MYO6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYO6 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 MYO6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYO6 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 MYO6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYO6 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 MYO6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYO6 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
MYO6 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