Distal myopathies
Gene: MYOT
Comment when marking as ready: mutations in MYOT cause a distal myopathy phenotypeCreated: 20 Feb 2017, 4:39 p.m.
Note that limb-girdle muscular dystrophy type 1A (LGMD1A; 159000) and spheroid body myopathy (182920) are allelic disorders with overlapping features.Created: 1 Feb 2017, 9:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, myofibrillar 3, 609200
Publications
Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar 3, 609200 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
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).
Phenotypes for MYOT were set to Myopathy, myofibrillar 3, 609200
Publications for MYOT were set to 15111675
Mode of inheritance for MYOT was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
MYOT was added to Distal myopathiespanel. Sources: Eligibility statement prior genetic testing