Limb girdle muscular dystrophy
Gene: MYH7Comment on mode of inheritance: Changed from 'both' to monoallelic due to the publication provided by the reviewers and mode of inheritance provided in OMIM for this phenotype. To confirm with the reviewers.Created: 28 Nov 2019, 4:43 p.m. | Last Modified: 28 Nov 2019, 4:43 p.m.
Panel Version: 1.139
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.Created: 28 Nov 2019, 4:41 p.m. | Last Modified: 28 Nov 2019, 4:41 p.m.
Panel Version: 1.138
Scapuloperoneal syndrome. Variable phenotype fromsevere cardiomyopathy, distal myopathy, proximal and distal myopathy and asymptomatic hyperCKemia.Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Laing distal myopathy; cardiomyopathy; distal myopathy
Publications
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Laing distal myopathy, 160500
Publications
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).
Source NHS GMS was added to MYH7.
Source Yorkshire and North East GLH was added to MYH7.
Phenotypes for gene: MYH7 were changed from Laing distal myopathy, 160500 to Laing distal myopathy, 160500; cardiomyopathy; distal myopathy
Mode of inheritance for gene MYH7 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Laing distal myopathy, 160500 for gene: MYH7 Publications for gene MYH7 were changed from to 15322983
gene: MYH7 was added gene: MYH7 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: MYH7 was set to