Paediatric disorders - additional genes
Gene: MYH7Comment on mode of inheritance: Updated MOI from MONOALLELIC to BOTH monoallelic and biallelic to match suggested MOI in review, and MOI of MYH7 on 'Cardiomyopathies - including childhood onset' panel (panel 749) version 1.0. Myopathy, myosin storage, autosomal recessive (MIM:255160) has AR inheritance in OMIM.Created: 12 Dec 2019, 10:57 a.m. | Last Modified: 12 Dec 2019, 10:57 a.m.
Panel Version: 0.44
Comment on mode of inheritance: Awaiting confirmation that this gene should be 'both' or monoallelic as mode of inheritance.Created: 26 Nov 2019, 2:44 p.m. | Last Modified: 26 Nov 2019, 2:44 p.m.
Panel Version: 0.39
Comment on list classification: Promoted from Red to Green, as this gene is Green on multiple version 1+ cardio panels.Created: 26 Nov 2019, 2:43 p.m. | Last Modified: 26 Nov 2019, 2:43 p.m.
Panel Version: 0.38
This gene was submitted by Rebecca Whittington on behalf of the South West GLH, for inclusion on the Paediatric disorders panel (https://panelapp.genomicsengland.co.uk/panels/486/).Created: 26 Nov 2019, 2:38 p.m. | Last Modified: 26 Nov 2019, 2:38 p.m.
Panel Version: 0.35
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5; Myopathy, myosin storage, autosomal dominant; Myopathy, myosin storage, autosomal recessive; Scapuloperoneal syndrome, myopathic type
Phenotypes for gene: MYH7 were changed from Cardiomyopathy, dilated, 1S; Left ventricular noncompaction 5; Cardiomyopathy, hypertrophic, 1; Myopathy, myosin storage, autosomal recessive; Myopathy, myosin storage, autosomal dominant; Scapuloperoneal syndrome, myopathic type; Laing distal myopathy to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Scapuloperoneal syndrome, myopathic type, OMIM:181430; MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Myopathy, myosin storage, autosomal dominant, OMIM:608358; Myopathy, myosin storage, autosomal dominant, MONDO:0012018; Left ventricular noncompaction 5, OMIM:613426
Mode of inheritance for gene: MYH7 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of inheritance for gene: MYH7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: myh7 has been classified as Green List (High Evidence).
gene: MYH7 was added gene: MYH7 was added to Paediatric disorders - additional genes. Sources: South West GLH Mode of inheritance for gene: MYH7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MYH7 were set to Cardiomyopathy, dilated, 1S; Left ventricular noncompaction 5; Cardiomyopathy, hypertrophic, 1; Myopathy, myosin storage, autosomal recessive; Myopathy, myosin storage, autosomal dominant; Scapuloperoneal syndrome, myopathic type; Laing distal myopathy