Monogenic hearing loss
Gene: MYO15APMID: 33078831 - Wonkam et al 2020 - report an additional 4 patients from Cameroon with autosomal recessive non syndromic hearing impairment and a homozygous variant in MYO15A (all have c.4888 T, p.R1630C).Created: 3 Mar 2021, 1:53 p.m. | Last Modified: 3 Mar 2021, 1:53 p.m.
Panel Version: 2.154
Phenotypes
Deafness, autosomal recessive 3 OMIM:600316; autosomal recessive nonsyndromic deafness 3 MONDO:0010860
Publications
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#600316:Deafness, autosomal recessive 3[Profound, congenital, neurosensory, nonsyndromal deafness]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:56 p.m.
Phenotypes for gene: MYO15A were changed from Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 3, 600316; hearing loss to Deafness, autosomal recessive 3 OMIM:600316; autosomal recessive nonsyndromic deafness 3 MONDO:0010860
Publications for gene: MYO15A were set to PMID:10552926; 10915760; 11735029; 12966030; 15590698; 15654330; 17546645; 17851452; 17853461; 21236676; 7704031; 9603735; 9603736
Publications for MYO15A were set to PMID:10552926; 10915760; 11735029; 12966030; 15590698; 15654330; 17546645; 17851452; 17853461; 21236676; 7704031; 9603735; 9603736
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene MYO15A was changed to BIALLELIC, autosomal or pseudoautosomal
MYO15A 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 MYO15A was changed to BIALLELIC, autosomal or pseudoautosomal
MYO15A 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 MYO15A was changed to BIALLELIC, autosomal or pseudoautosomal
MYO15A 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 MYO15A was changed to BIALLELIC, autosomal or pseudoautosomal
MYO15A 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
MYO15A 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