Congenital muscular dystrophy and congenital myopathy

Gene: PLEC

I don't know

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.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle autosomal recessive 17, 613723; Epidermolysis bullosa simplex with muscular dystrophy, 226670

Publications

• 21109228

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.

Red List (low evidence)

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