Monogenic hearing loss
Gene: MYO15AEnsemblGeneIds (GRCh38): ENSG00000091536
EnsemblGeneIds (GRCh37): ENSG00000091536
OMIM: 602666, Gene2Phenotype
MYO15A is in 2 panels
6 reviews
Eleanor Williams (Genomics England Curator)
PMID: 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
Ellen McDonagh (Genomics England Curator)
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:54 p.m.
Lampros Mavrogiannis (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Maria Bitner-Glindzicz (UCL)
Jun Shen (Harvard Medical School)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#600316:Deafness, autosomal recessive 3[Profound, congenital, neurosensory, nonsyndromal deafness]
Damian Smedley (Genomics England Curator)
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:56 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Deafness, autosomal recessive 3 OMIM:600316
- autosomal recessive nonsyndromic deafness 3 MONDO:0010860
- OMIM
- 602666
- Clinvar variants
- Variants in MYO15A
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)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
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: MYO15A were set to PMID:10552926; 10915760; 11735029; 12966030; 15590698; 15654330; 17546645; 17851452; 17853461; 21236676; 7704031; 9603735; 9603736
Set publications
Ellen McDonagh (Genomics England Curator)Publications for MYO15A were set to PMID:10552926; 10915760; 11735029; 12966030; 15590698; 15654330; 17546645; 17851452; 17853461; 21236676; 7704031; 9603735; 9603736
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 MYO15A was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYO15A was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYO15A was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene MYO15A was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)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
Added New Source
Ellen McDonagh (Genomics England Curator)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