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DDG2P

Gene: MYH6

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

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for MYH6-related atrial septal defect are limited, monoallelic_autosomal and loss of function (PMIDs: 15735645, 20656787, 29505555, 29536580, 29969989, 31638415, 34481090). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00379.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease ATRIAL SEPTAL DEFECT TYPE 3, OMIM:614089 is limited. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 15735645;29536580;31638415;34481090;29969989;29505555;20656787).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
ATRIAL SEPTAL DEFECT TYPE 3, OMIM:614089; MYH6-related atrial septal defect; OMIM:614089.0; MONDO:0013567

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Eleanor Williams (Genomics England Curator)

This gene needs further investigation as to the rating when this panel is updated from Gene2Phenotype DD panel. Q3_22 tags added to flag it only.
Created: 5 Aug 2022, 9:59 p.m. | Last Modified: 10 Aug 2022, 10:01 a.m.
Panel Version: 2.77
Created: 5 Aug 2022, 9:59 p.m.
Last Modified: 10 Aug 2022, 10:01 a.m.
Panel version: 2.76

Dmitrijs Rots (Children's Clinical University Hospital)

Red List (low evidence)

DD is not part of the phenotype, so the gene should not be in the panel.
Created: 28 Dec 2021, 5:47 a.m. | Last Modified: 28 Dec 2021, 5:47 a.m.
Panel Version: 2.55

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 28 Dec 2021, 5:47 a.m.
Last Modified: 28 Dec 2021, 5:47 a.m.
Panel version: 2.55

Rebecca Foulger (Genomics England curator)

I don't know

In a Gene2Phenotype update (September 2019) the G2P confidence rating of 'both DD and IF' was changed to 'both RD and IF' (where RD = relevant disease and IF = incidental disorder). Therefore the rating is now 'RD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
Created: 3 Oct 2019, 12:25 p.m. | Last Modified: 3 Oct 2019, 12:27 p.m.
Panel Version: 1.126
Changed rating from Amber to Green: agreed by the Genomics England clinical team that the DDG2P Disease confidence of 'both DD and IF' should be represented by a Green rating in PanelApp.
Created: 12 Jul 2019, 9:15 p.m. | Last Modified: 12 Jul 2019, 9:15 p.m.
Panel Version: 1.76
Changed rating to Amber to reflect DDG2P Disease confidence of 'DD and IF' for ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
Created: 29 Jan 2019, 12:14 p.m.
Original DDG2P rating: both DD and IF (for all listed disorders). DDG2P mode of pathogenicity for all disorders: uncertain
Created: 19 Nov 2018, 11:30 a.m.
Created: 19 Nov 2018, 11:30 a.m.
Last Modified: 3 Oct 2019, 12:27 p.m.
Panel version: 1.125

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • CARDIOMYOPATHY DILATED TYPE 1EE 613252
  • CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251
  • ATRIAL SEPTAL DEFECT TYPE 3 614089
OMIM
160710
Clinvar variants
Variants in MYH6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: MYH6 was changed from Other - please provide details in the comments to None

6 Oct 2023, Gel status: 1

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_22_rating was removed from gene: MYH6. Tag Q3_22_expert_review was removed from gene: MYH6.

4 Oct 2023, Gel status: 1

Added New Source, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Red was added to MYH6. Publications for gene: MYH6 were updated from to 15735645; 29536580; 31638415; 20656787; 29969989; 29505555; 34481090 Rating Changed from Green List (high evidence) to Red List (low evidence)

10 Aug 2022, Gel status: 3

Added Tag, Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_22_rating tag was added to gene: MYH6. Tag Q3_22_expert_review tag was added to gene: MYH6.

3 Oct 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: MYH6 were changed from CARDIOMYOPATHY DILATED TYPE 1EE 613252; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251; ATRIAL SEPTAL DEFECT TYPE 3 160710 to CARDIOMYOPATHY DILATED TYPE 1EE 613252; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251; ATRIAL SEPTAL DEFECT TYPE 3 614089

12 Jul 2019, Gel status: 3

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Green was added to MYH6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: both DD

29 Jan 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to MYH6. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 613251 for gene: MYH6

19 Nov 2018, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Added phenotypes CARDIOMYOPATHY DILATED TYPE 1EE 613252 for gene: MYH6

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: MYH6 was added gene: MYH6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYH6 were set to ATRIAL SEPTAL DEFECT TYPE 3 160710 Mode of pathogenicity for gene: MYH6 was set to Other - please provide details in the comments