Hypertrophic cardiomyopathy - teen and adult

Gene: MYO6

Red List (low evidence)

MYO6 (myosin VI)
EnsemblGeneIds (GRCh38): ENSG00000196586
EnsemblGeneIds (GRCh37): ENSG00000196586
OMIM: 600970, Gene2Phenotype
MYO6 is in 2 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy (606346)
Created: 25 Mar 2019, 4:30 p.m.
1 report of HCM with deafness. 15060111
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy
OMIM
600970
Clinvar variants
Variants in MYO6
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to MYO6. Mode of inheritance for gene MYO6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MYO6 was added to Hypertrophic Cardiomyopathypanel. Sources: Radboud University Medical Center, Nijmegen