Fetal anomalies
Gene: MYH6The 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
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
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
Tag Q1_22_MOI was removed from gene: MYH6.
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
Tag Q1_22_MOI tag was added to gene: MYH6.
Mode of inheritance for gene: MYH6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Source Expert Review Green was added to MYH6. Mode of inheritance for gene MYH6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Source Expert Review Amber was added to MYH6. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added phenotypes CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14 for gene: MYH6
Added phenotypes CARDIOMYOPATHY DILATED TYPE 1EE for gene: MYH6
gene: MYH6 was added gene: MYH6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE 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