Paediatric or syndromic cardiomyopathy
Gene: MYH7EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 panels
2 reviews
Ivone Leong (Genomics England Curator)
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, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Rebecca Whittington (South West GLH)
Cardiomyopathy, dilated, 1S OMIM#613426; Cardiomyopathy, hypertrophic, 1 OMIM#192600; Laing distal myopathy OMIM#160500; Left ventricular noncompaction 5 OMIM#613426; Myopathy, myosin storage, autosomal dominant OMIM#608358; Myopathy, myosin storage, autosomal recessive OMIM#255160; Scapuloperoneal syndrome, myopathic type OMIM#181430.Created: 25 Mar 2019, 4:30 p.m.
Core HCM/DCM gene. Associated with paediatric cardiomyopathy in the literature including Pugh (2014) Genet Med 16, 601. Experience in the lab of at least 7 cases of paediatric onset cardiomyopathy with a likely pathogenic/pathogenic variant in the MYH7 gene. Four of these were found to have arisen denovo.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- South West GLH
- London South GLH
- Expert Review Green
- Phenotypes
-
- Cardiomyopathy, hypertrophic, 1, OMIM:192600
- Hypertrophic cardiomyopathy 1, MONDO:0008647
- Cardiomyopathy, dilated, 1S, OMIM:613426
- Dilated cardiomyopathy 1S, MONDO:0013262
- Left ventricular noncompaction 5, OMIM:613426
- OMIM
- 160760
- Clinvar variants
- Variants in MYH7
- Penetrance
- None
- Panels with this gene
-
- Left Ventricular Noncompaction Cardiomyopathy
- Hereditary neuropathy
- Paediatric disorders - additional genes
- Dilated and arrhythmogenic cardiomyopathy
- Congenital myopathy
- Hypertrophic cardiomyopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Distal myopathies
- Fetal hydrops
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: MYH7 were changed from Hypertrophic cardiomyopathy; Cardiomyopathy, dilated, 1S; Left ventricular noncompaction 5; Cardiomyopathy, familial hypertrophic, 1, to Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Left ventricular noncompaction 5, OMIM:613426
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to MYH7.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: MYH7 was added gene: MYH7 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYH7 were set to Hypertrophic cardiomyopathy; Cardiomyopathy, dilated, 1S; Left ventricular noncompaction 5; Cardiomyopathy, familial hypertrophic, 1,