Monogenic hearing loss
Gene: MYO3A
Comment on mode of inheritance: Leaving the mode of inheritance as biallelic, but note that 2 independent cases of monallelic inheritance have been reported.Created: 3 Mar 2021, 12:48 p.m. | Last Modified: 3 Mar 2021, 12:48 p.m.
Panel Version: 2.154
PMID: 33078831 - Wonkam et al 2020 - report 3 additional cases of patients from Cameroon with autosomal recessive non-syndromic hearing loss, who all have the same homozygous variant c.C424T, p.H142Y in MYO3A. This variant is found at low frequency in ExAC (AFR, ASI) populations and was not found in 129 healthy controls from Cameroon.
Wonkam et al also note that variants in this gene has also been associated with autosomal dominant hearing loss in an African American family (PMID: 26841241 Grati et al 2016) and 2 large, remotely-related Brazilian families (PMID: 29880844 - Dantas et al 2018, same variant reported in the 2 families).Created: 3 Mar 2021, 12:47 p.m. | Last Modified: 3 Mar 2021, 12:47 p.m.
Panel Version: 2.151
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 30 OMIM:607101; autosomal recessive nonsyndromic deafness 30 MONDO:0011774
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#607101:Deafness, autosomal recessive 30[Hearing loss, sensorineural, progressive (moderate to severe)]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 4:04 p.m.
Mode of inheritance for gene: MYO3A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO3A were changed from Nonsyndromic Hearing Loss, Recessive; Deafness, autosomal recessive 30, 607101; hearing loss to Deafness, autosomal recessive 30 OMIM:607101; autosomal recessive nonsyndromic deafness 30 MONDO:0011774
Publications for gene: MYO3A were set to PMID:10936054; 12032315; 21165622
Publications for MYO3A were set to PMID:10936054; 12032315; 21165622
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene MYO3A was changed to BIALLELIC, autosomal or pseudoautosomal
MYO3A 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 MYO3A was changed to BIALLELIC, autosomal or pseudoautosomal
MYO3A 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 MYO3A was changed to BIALLELIC, autosomal or pseudoautosomal
MYO3A 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 MYO3A was changed to BIALLELIC, autosomal or pseudoautosomal
MYO3A 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
MYO3A 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