Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: PLEC
Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 8:25 a.m.
Comment on list classification: Muscular dystrophy with or without epidermolysis bullosaCreated: 29 May 2016, 7:22 p.m.
Phenotypes for gene: PLEC were changed from Muscular dystrophy with epidermolysis bullosa simplex, 226670; Limb-girdle muscular dystrophy to Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723; Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
This gene has been classified as Green List (High Evidence).
Publications for PLEC were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/
Mode of inheritance for PLEC was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
PLEC was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
PLEC was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen