Laterality disorders and isomerism

Gene: MYH6

Red List (low evidence)

MYH6 (myosin heavy chain 6)
EnsemblGeneIds (GRCh38): ENSG00000197616
EnsemblGeneIds (GRCh37): ENSG00000197616
OMIM: 160710, Gene2Phenotype
MYH6 is in 13 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: This gene is also associated with Atrial septal defect 3, OMIM:614089
Created: 13 Apr 2021, 2:53 p.m. | Last Modified: 13 Apr 2021, 2:53 p.m.
Panel Version: 1.40
Comment on list classification: Downgraded from Amber to Red. There is currently no evidence to support that MYH6 is associated with heterotaxy/laterality defects.
Created: 13 Apr 2021, 2:50 p.m. | Last Modified: 13 Apr 2021, 2:50 p.m.
Panel Version: 1.38

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Variants reported in multiple CHD families, in particular atrial septal defect. Gain of function has been postulated as the disease mechanism. Cannot find association with heterotaxy/laterality defects.
Created: 1 Jun 2020, 8:20 a.m. | Last Modified: 1 Jun 2020, 8:20 a.m.
Panel Version: 1.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Atrial septal defect 3 (MIM#614089)

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: MYH6; Suggested initial gene rating: Amber; Evidence for inclusion: OMIMM ASD3; unclear if associated w/ laterality defects; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 5 Dec 2018, 12:52 p.m.

History Filter Activity

13 Apr 2021, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MYH6 were changed from Atrial septal defect 3, OMIM:614089 to visceral heterotaxy, MONDO:0018677

13 Apr 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

13 Apr 2021, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MYH6 were changed from to Atrial septal defect 3, OMIM:614089

13 Apr 2021, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MYH6 were set to

13 Apr 2021, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: MYH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

5 Dec 2018, Gel status: 2

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

5 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: MYH6 was added gene: MYH6 was added to Laterality disorders and isomerism. Sources: NHS GMS Mode of inheritance for gene: MYH6 was set to