Congenital muscular dystrophy

Gene: PLEC

Green List (high evidence)

PLEC (plectin)
EnsemblGeneIds (GRCh38): ENSG00000178209
EnsemblGeneIds (GRCh37): ENSG00000178209
OMIM: 601282, Gene2Phenotype
PLEC is in 12 panels

4 reviews

Louise Daugherty (Genomics England Curator)

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.

Rachael Mein (Viapath at Guy's Hospital)

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

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Is a green gene on the Limb girdle muscular dystrophy gene panel.
Created: 25 Jan 2017, 12:20 p.m.

Emma Clement (Great Ormond Street Hospital)

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Muscular dystrophy with epidermolysis bullosa simplex, 226670
  • Muscular dystrophy, limb-girdle autosomal recessive 17, 613723
  • Epidermolysis bullosa simplex with muscular dystrophy, 226670
OMIM
601282
Clinvar variants
Variants in PLEC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: plec has been classified as Green List (High Evidence).

14 Oct 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: plec has been classified as Amber List (Moderate Evidence).

14 Oct 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PLEC were set to 21109228

3 May 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: PLEC was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

29 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: PLEC were set to

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PLEC.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to PLEC.

27 Jan 2017, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

25 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PLEC was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PLEC was added to Congenital muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen