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  2. Cardiomyopathy_Paediatric
  3. MYH6
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Cardiomyopathy_Paediatric

Gene: MYH6

Red List (low evidence)
MYH6 (myosin heavy chain 6)
EnsemblGeneIds (GRCh38): ENSG00000197616
EnsemblGeneIds (GRCh37): ENSG00000197616
OMIM: 160710, Gene2Phenotype
MYH6 is in 7 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: ClinGen HCVD GCEP has classified the HCM association as Disputed (https://search.clinicalgenome.org/CCID:008325) and the DCM association as Limited (https://search.clinicalgenome.org/CCID:005520)
Created: 22 Aug 2024, 7:59 a.m. | Last Modified: 22 Aug 2024, 7:59 a.m.
Panel Version: 0.193
Created: 22 Aug 2024, 7:59 a.m.
Last Modified: 22 Aug 2024, 7:59 a.m.
Panel version: 0.193

Ivan Macciocca (Victorian Clinical Genetics Services)

Red List (low evidence)

LIMITED evidence by ClinGen HCM working group
Created: 21 Jun 2020, 6:20 a.m. | Last Modified: 21 Jun 2020, 6:20 a.m.
Panel Version: 0.67

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hypertrophic cardiomyopathy

Publications

Created: 21 Jun 2020, 6:20 a.m.
Last Modified: 21 Jun 2020, 6:20 a.m.
Panel version: Imported from Hypertrophic cardiomyopathy_HCM panel version 0.67

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London South GLH
  • South West GLH
  • NHS GMS
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 14
  • Cardiomyopathy, dilated, 1EE
OMIM
160710
Clinvar variants
Variants in MYH6
Penetrance
None
Panels with this gene

History Filter Activity

22 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: myh6 has been classified as Red List (Low Evidence).

22 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: myh6 has been classified as Red List (Low Evidence).

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MYH6 was added gene: MYH6 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,London South GLH,Expert Review Green Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH6 were set to Cardiomyopathy, familial hypertrophic, 14; Cardiomyopathy, dilated, 1EE