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  2. Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
  3. PLEC
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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Gene: PLEC

Green List (high evidence)
PLEC (plectin)
EnsemblGeneIds (GRCh38): ENSG00000178209
EnsemblGeneIds (GRCh37): ENSG00000178209
OMIM: 601282, Gene2Phenotype
PLEC is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 8:25 a.m.
Created: 27 Jul 2016, 8:25 a.m.

Panel version: 0.116

Ellen Thomas (Genomics England Curator)

Comment on list classification: Muscular dystrophy with or without epidermolysis bullosa
Created: 29 May 2016, 7:22 p.m.
Created: 29 May 2016, 7:22 p.m.

Panel version: 0.30

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
OMIM
601282
Clinvar variants
Variants in PLEC
Penetrance
Complete
Publications
  • http://www.ncbi.nlm.nih.gov/books/NBK1408/
Panels with this gene

History Filter Activity

13 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

29 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 May 2016, Gel status: 4

Set publications

Ellen Thomas (Genomics England Curator)

Publications for PLEC were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/

29 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

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

29 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

PLEC was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PLEC was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen