Hypertrophic cardiomyopathy
Gene: MYOZ2
Cardiomyopathy, hypertrophic, 16 (613838)Created: 25 Mar 2019, 4:30 p.m.
Four DM variants on HGMD with two references: Cecconi (2016) Int J Mol Med 38: 1111 PubMed: 27600940 and Osio (2007) Circ Res 100: 766 PubMed: 17347475. Mouse model generated using a couple of missesnse variants detected and suggest involvement in HCM: Ruggiero (2013) Cardiovasc Res 97: 44 PubMed: 22987565. May be a rare cause of disease. 1 of these variants has been downgraded to a VUS given MAF. Insuffient evidence, no segregation.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Comment on list classification: Only 2 unrelated individuals in OMIM; not on Manchester diagnostic panels or DDG2PCreated: 11 Feb 2016, 3:09 p.m.
Source South West GLH was added to MYOZ2. Mode of inheritance for gene MYOZ2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to MYOZ2.
This gene has been classified as Red List (Low Evidence).
MYOZ2 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
Model of inheritance for gene MYOZ2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYOZ2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene MYOZ2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYOZ2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
MYOZ2 was added to Hypertrophic Cardiomyopathypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services