Fetal anomalies
Gene: MYH6

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

3 reviews

Arina Puzriakova (Genomics England Curator)

The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Created: 30 Jan 2023, 4:26 p.m. | Last Modified: 30 Jan 2023, 4:26 p.m.

Panel Version: 2.10

Created: 30 Jan 2023, 4:26 p.m.
Last Modified: 30 Jan 2023, 4:26 p.m.
Panel version: 2.10

Ivone Leong (Genomics England Curator)

MOI should be changed to "Both monoallelic and biallelic" as Monoallelic variants also cause congenital heart defects.
Created: 18 Mar 2022, 12:40 p.m. | Last Modified: 18 Mar 2022, 12:40 p.m.

Panel Version: 1.844

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 18 Mar 2022, 12:40 p.m.
Last Modified: 18 Mar 2022, 12:40 p.m.
Panel version: 1.844

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Comment on mode of inheritance: MYH6 had 'monoallelic' inheritance in the original PAGE list/DD-G2P for all three disorders. Changed mode of inheritance from 'monoallelic' to 'biallelic' following group expert clinical review by Lyn Chitty, Richard Scott, Anna de Burca and Rhiannon Mellis on 26th April 2019.
Created: 29 Apr 2019, 12:43 p.m.

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Include MYH6 on the panel with BIALLELIC inheritance.
Created: 29 Apr 2019, 12:28 p.m.

In original PAGE file, mode of inheritance is 'Monoallelic' for all three disorders (ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14).
Created: 27 Apr 2019, 10:26 a.m.

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: 12 Feb 2019, 2:32 p.m.

Rating in original PAGE file: 'both DD and IF' for all three disorders: ATRIAL SEPTAL DEFECT TYPE 3, CARDIOMYOPATHY DILATED TYPE 1EE and CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14.
Created: 6 Dec 2018, 10:07 a.m.

In the original PAGE file, MOP listed as Uncertain for all three disorders (ATRIAL SEPTAL DEFECT TYPE 3, CARDIOMYOPATHY DILATED TYPE 1EE, CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14).
Created: 8 Nov 2018, 4:45 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.222

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
PAGE DD-Gene2Phenotype

Phenotypes

ATRIAL SEPTAL DEFECT TYPE 3
CARDIOMYOPATHY DILATED TYPE 1EE
CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14

OMIM

160710

Clinvar variants

Variants in MYH6

Penetrance

None

Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_22_MOI was removed from gene: MYH6.

30 Jan 2023, Gel status: 3

Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to MYH6. Mode of inheritance for gene MYH6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

22 Mar 2022, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q1_22_MOI tag was added to gene: MYH6.

29 Apr 2019, Gel status: 4