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Incidentalome

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEFINITIVE by ClinGen for HCM and DCM, multiple families with segregation evidence and functional data.

Also multiple families reported with skeletal myopathies.
Created: 18 May 2021, 3:23 a.m. | Last Modified: 12 Aug 2022, 1:39 a.m.
Panel Version: 0.151

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 1S, MIM# 613426; MONDO:0013262; Cardiomyopathy, hypertrophic, 1, MIM# 192600; Laing distal myopathy, MIM# 160500; Myopathy, myosin storage, autosomal dominant, MIM# 608358; Myopathy, myosin storage, autosomal recessive, MIM# 255160

Publications

Created: 18 May 2021, 3:23 a.m.
Last Modified: 12 Aug 2022, 1:39 a.m.
Panel version: 0.151

Ivan Macciocca (Victorian Clinical Genetics Services)

Green List (high evidence)

DEFINITIVE by ClinGen HCM working group PMID: 30681346
Created: 19 Jun 2020, 2:34 p.m. | Last Modified: 19 Jun 2020, 2:34 p.m.
Panel Version: 0.28

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypertrophic cardiomyopathy; LVNC; DCM

Publications

Created: 19 Jun 2020, 2:34 p.m.
Last Modified: 19 Jun 2020, 2:34 p.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.28

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1S, MIM# 613426
  • MONDO:0013262
  • Cardiomyopathy, hypertrophic, 1, MIM# 192600
  • Laing distal myopathy, MIM# 160500
  • Myopathy, myosin storage, autosomal dominant, MIM# 608358
  • Myopathy, myosin storage, autosomal recessive, MIM# 255160
Tags
cardiac
OMIM
160760
Clinvar variants
Variants in MYH7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Aug 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MYH7 were changed from to Cardiomyopathy, dilated, 1S, MIM# 613426; MONDO:0013262; Cardiomyopathy, hypertrophic, 1, MIM# 192600; Laing distal myopathy, MIM# 160500; Myopathy, myosin storage, autosomal dominant, MIM# 608358; Myopathy, myosin storage, autosomal recessive, MIM# 255160

12 Aug 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MYH7 were set to

12 Aug 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MYH7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

12 Aug 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag cardiac tag was added to gene: MYH7.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYH7 was added gene: MYH7 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: MYH7 was set to Unknown