Distal myopathies
Gene: MYH7
Comment when marking as ready: Marked as ready as clearly associated with distal myopathyCreated: 20 Feb 2017, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Laing distal myopathy, 160500
Publications
Phenotypes for gene: MYH7 were changed from Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050 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
Phenotypes for gene: MYH7 were changed from Laing distal myopathy, 160500 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050
Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
This gene has been classified as Green List (High Evidence).
Publications for MYH7 were set to 20301606
Phenotypes for MYH7 were set to Laing distal myopathy, 160500
Publications for MYH7 were set to 20301606
Mode of inheritance for MYH7 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene MYH7 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYH7 was added to Distal myopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
MYH7 was added to Distal myopathiespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services