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  2. Paediatric or syndromic cardiomyopathy
  3. MYH6
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Paediatric or syndromic cardiomyopathy

Gene: MYH6

Green List (high evidence)
MYH6 (myosin heavy chain 6)
EnsemblGeneIds (GRCh38): ENSG00000197616
EnsemblGeneIds (GRCh37): ENSG00000197616
OMIM: 160710, Gene2Phenotype
MYH6 is in 11 panels

2 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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
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)

Green List (high evidence)

Atrial septal defect 3 OMIM#614089; Cardiomyopathy, dilated, 1EE OMIM#613252; Cardiomyopathy, hypertrophic, 14 OMIM#613251; {Sick sinus syndrome 3} OMIM#614090
Created: 25 Mar 2019, 4:30 p.m.
HGMD: 31 variants assoc with DCM only 10 DM. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 4% of DCM patients). Paediatric onset CHD such as ASD and VSD is reported with this gene but cardiomyopathy reported with this gene is mainly adult onset.
Created: 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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: Imported from Previous cardiomyopathies - including childhood onset panel version 1.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • London South GLH
  • Expert Review Green
Phenotypes
  • Atrial septal defect 3, OMIM:614089
  • Cardiomyopathy, dilated, 1EE OMIM:613252
  • Cardiomyopathy, hypertrophic, 14, OMIM:613251
  • {Sick sinus syndrome 3}, OMIM:614090
OMIM
160710
Clinvar variants
Variants in MYH6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: MYH6 were set to

3 May 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: MYH6 were changed from Cardiomyopathy, dilated, 1EE; Cardiomyopathy, familial hypertrophic, 14 to Atrial septal defect 3, OMIM:614089; Cardiomyopathy, dilated, 1EE OMIM:613252; Cardiomyopathy, hypertrophic, 14, OMIM:613251; {Sick sinus syndrome 3}, OMIM:614090

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to MYH6.

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

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