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Paediatric disorders - additional genes

Gene: MYH7

Green List (high evidence)
MYH7 (myosin heavy chain 7)
EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Updated MOI from MONOALLELIC to BOTH monoallelic and biallelic to match suggested MOI in review, and MOI of MYH7 on 'Cardiomyopathies - including childhood onset' panel (panel 749) version 1.0. Myopathy, myosin storage, autosomal recessive (MIM:255160) has AR inheritance in OMIM.
Created: 12 Dec 2019, 10:57 a.m. | Last Modified: 12 Dec 2019, 10:57 a.m.
Panel Version: 0.44
Created: 12 Dec 2019, 10:57 a.m.
Last Modified: 12 Dec 2019, 10:57 a.m.
Panel version: 0.44

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: Awaiting confirmation that this gene should be 'both' or monoallelic as mode of inheritance.
Created: 26 Nov 2019, 2:44 p.m. | Last Modified: 26 Nov 2019, 2:44 p.m.
Panel Version: 0.39
Comment on list classification: Promoted from Red to Green, as this gene is Green on multiple version 1+ cardio panels.
Created: 26 Nov 2019, 2:43 p.m. | Last Modified: 26 Nov 2019, 2:43 p.m.
Panel Version: 0.38
This gene was submitted by Rebecca Whittington on behalf of the South West GLH, for inclusion on the Paediatric disorders panel (https://panelapp.genomicsengland.co.uk/panels/486/)
Created: 26 Nov 2019, 2:38 p.m. | Last Modified: 26 Nov 2019, 2:38 p.m.
Panel Version: 0.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5; Myopathy, myosin storage, autosomal dominant; Myopathy, myosin storage, autosomal recessive; Scapuloperoneal syndrome, myopathic type

Created: 26 Nov 2019, 2:38 p.m.
Last Modified: 26 Nov 2019, 2:38 p.m.
Panel version: 0.35

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Laing distal myopathy, OMIM:160500
  • Laing early-onset distal myopathy, MONDO:0008050
  • Scapuloperoneal syndrome, myopathic type, OMIM:181430
  • MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409
  • Cardiomyopathy, hypertrophic, 1, OMIM:192600
  • Hypertrophic cardiomyopathy 1, MONDO:0008647
  • Cardiomyopathy, dilated, 1S, OMIM:613426
  • Dilated cardiomyopathy 1S, MONDO:0013262
  • Myopathy, myosin storage, autosomal dominant, OMIM:608358
  • Myopathy, myosin storage, autosomal dominant, MONDO:0012018
  • Left ventricular noncompaction 5, OMIM:613426
OMIM
160760
Clinvar variants
Variants in MYH7
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYH7 were changed from Cardiomyopathy, dilated, 1S; Left ventricular noncompaction 5; Cardiomyopathy, hypertrophic, 1; Myopathy, myosin storage, autosomal recessive; Myopathy, myosin storage, autosomal dominant; Scapuloperoneal syndrome, myopathic type; Laing distal myopathy to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Scapuloperoneal syndrome, myopathic type, OMIM:181430; MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Myopathy, myosin storage, autosomal dominant, OMIM:608358; Myopathy, myosin storage, autosomal dominant, MONDO:0012018; Left ventricular noncompaction 5, OMIM:613426

12 Dec 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

26 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

26 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: myh7 has been classified as Green List (High Evidence).

26 Nov 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: MYH7 was added gene: MYH7 was added to Paediatric disorders - additional genes. Sources: 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 Cardiomyopathy, dilated, 1S; Left ventricular noncompaction 5; Cardiomyopathy, hypertrophic, 1; Myopathy, myosin storage, autosomal recessive; Myopathy, myosin storage, autosomal dominant; Scapuloperoneal syndrome, myopathic type; Laing distal myopathy