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Arthrogryposis

Gene: PLEC

Red List (low evidence)

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

2 reviews

Alice Gardham (Genomics England)

Comment when marking as ready: No association with arthrogryposis
Created: 22 Dec 2016, 4:02 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Muscular dystrophy with epidermolysis bullosa simplex, 226670
OMIM
601282
Clinvar variants
Variants in PLEC
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PLEC was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen PLEC was added to Arthrogryposispanel. Source:

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PLEC was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PLEC was added to Arthrogryposispanel. Sources: Expert list