Congenital muscular dystrophy
Gene: PLEC
Comment on list classification: Changed from Amber to Green. Appropriate phenotypes, sufficient cases, and external review comment all support gene-disease association.Created: 14 Oct 2019, 2:54 p.m. | Last Modified: 14 Oct 2019, 2:54 p.m.
Panel Version: 1.68
Added publications to support green rating. PMID: 28447722 second report on plectin associated Limb-girdle muscular dystrophy 2Q without other symptoms, although the genotype identified was novel. From PMID: 20624679: report a boy presenting from birth with features of a congenital muscular dystrophy and late-onset myasthenic symptoms.Created: 14 Oct 2019, 2:43 p.m. | Last Modified: 14 Oct 2019, 2:53 p.m.
Panel Version: 1.67
Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.Created: 29 Apr 2019, 3:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Is a green gene on the Limb girdle muscular dystrophy gene panel.Created: 25 Jan 2017, 12:20 p.m.
one case report. Associated with epidermolysis bullosa. More case reports of EB with later onset muscular/ limb girdle MD. Also rports of myasthenic type symptoms in some.Created: 19 Dec 2016, 11:47 a.m.
Phenotypes
Muscular dystrophy with epidermolysis bullosa simplex, 226670
Source was removed from PLEC.
Phenotypes for gene: PLEC were changed from Muscular dystrophy with epidermolysis bullosa simplex, 226670; Muscular dystrophy, limb-girdle autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670 to Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723; Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
Gene: plec has been classified as Green List (High Evidence).
Gene: plec has been classified as Amber List (Moderate Evidence).
Publications for gene: PLEC were set to 21109228
Mode of inheritance for gene: PLEC was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were changed from Muscular dystrophy with epidermolysis bullosa simplex, 226670 to Muscular dystrophy with epidermolysis bullosa simplex, 226670; Muscular dystrophy, limb-girdle autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670
Publications for gene: PLEC were set to
Source NHS GMS was added to PLEC.
Source London South GLH was added to PLEC.
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Red List (Low Evidence).
PLEC was added to Congenital muscular dystrophypanel. Source:
PLEC was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen