Hypertrophic cardiomyopathy
Gene: MYH7Comment on mode of inheritance: Association with monoallelic variants is well-established. To date, only four families have been reported with recessive variants (PMIDs: 14659406; 25666907; 17372140; 31130376). Of these, one family developed dilated cardiomyopathy and one had hypertrophic cardiomyopathy, while cardiac function was normal in the remaining two families. Therefore, maintaining MOI of monoallelic only at this time but with a watchlist_moi tag to monitor for evidence linking biallelic variants linked to HCM.Created: 10 Oct 2022, 1:15 p.m. | Last Modified: 10 Oct 2022, 1:15 p.m.
Panel Version: 2.42
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 11:26 a.m. | Last Modified: 2 Dec 2019, 11:26 a.m.
Panel Version: 1.81
Cardiomyopathy, hypertrophic, 1 (192600 )Created: 25 Mar 2019, 4:30 p.m.
Sarcomeric HCM genes - well established geneCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Gene on Royal Brompton diagnostic panel. Definitive HCM-causing sarcomeric gene.Created: 19 Mar 2019, 5:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
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.
Gene currently tested on Manchester cardiac gene panel. 1002 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with hypertrophic cardiomyopathy 1 (accessed 29/01/2019).
See attached MYH7 guidelines (Kelly et al 2018), truncating variants are not a recognised mechanism for disease.Created: 15 Feb 2019, 9:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1S (613426); Cardiomyopathy, hypertrophic, 1 (192600); Laing distal myopathy (160500); Left ventricular noncompaction 5 (613426); Myopathy, myosin storage, autosomal dominant (608358); Myopathy, myosin storage, autosomal recessive (255160); Scapuloperoneal syndrome, myopathic type (181430)
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: On Manchester HCM diagnostic panelCreated: 11 Feb 2016, 3:08 p.m.
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag watchlist_moi tag was added to gene: MYH7.
Phenotypes for gene: MYH7 were changed from Left ventricular noncompaction 5 (613426); Myopathy, myosin storage, autosomal dominant (608358); Laing distal myopathy (160500); Myopathy, myosin storage, autosomal recessive (255160); Cardiomyopathy, hypertrophic, 1 (192600); Cardiomyopathy, dilated, 1S (613426); Scapuloperoneal syndrome, myopathic type (181430); Cardiomyopathy, familial hypertrophic, 1, to Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647
Publications for gene: MYH7 were set to 27532257; 28369730
Source South West GLH was added to MYH7. Mode of inheritance for gene MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source London South GLH was added to MYH7.
Source North West GLH was added to MYH7. Added phenotypes Left ventricular noncompaction 5 (613426); Myopathy, myosin storage, autosomal dominant (608358); Laing distal myopathy (160500); Myopathy, myosin storage, autosomal recessive (255160); Cardiomyopathy, hypertrophic, 1 (192600); Cardiomyopathy, dilated, 1S (613426); Scapuloperoneal syndrome, myopathic type (181430) for gene: MYH7 Publications for gene MYH7 were changed from to 27532257; 28369730 Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
MYH7 was added to Hypertrophic Cardiomyopathypanel. Sources: Eligibility statement prior genetic testing
MYH7 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list
Model of inheritance for gene MYH7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYH7 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene MYH7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYH7 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Model of inheritance for gene MYH7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYH7 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
MYH7 was added to Hypertrophic Cardiomyopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services