Arthrogryposis
Gene: PLEC
PLEC (plectin)
EnsemblGeneIds (GRCh38): ENSG00000178209
EnsemblGeneIds (GRCh37): ENSG00000178209
OMIM: 601282, Gene2Phenotype
PLEC is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000178209
EnsemblGeneIds (GRCh37): ENSG00000178209
OMIM: 601282, Gene2Phenotype
PLEC is in 11 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: No association with arthrogryposisCreated: 22 Dec 2016, 4:02 p.m.
Emma Clement (Great Ormond Street Hospital)
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
-
- Congenital myaesthenic syndrome
- Familial cicatricial alopecia
- Epidermolysis bullosa and congenital skin fragility
- DDG2P
- Epidermolysis bullosa
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Intellectual disability
- Fetal anomalies
- Ectodermal dysplasia
- Congenital muscular dystrophy
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