Research panel - Severe Paediatric Disorders
Gene: PLEC

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PLEC; Recommended initial gene rating: Green List (high evidence); Phenotypes: Epidermolysis bullosa simplex with muscular dystrophy, 226670 (3) | ?Epidermolysis bullosa simplex with nail dystrophy, 616487 (3) | Epidermolysis bullosa simplex with pyloric atresia, 612138 (3) | Epidermolysis bullosa simplex, Ogna type, 131950 (3) | Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal dominant | Autosomal recessive
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:23 p.m.
Last Modified: 20 Feb 2020, 5:23 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Muscular dystrophy, limb-girdle, autosomal recessive 17, 613723
Epidermolysis bullosa simplex with muscular dystrophy, 226670
?Epidermolysis bullosa simplex with nail dystrophy, 616487
Epidermolysis bullosa simplex, Ogna type, 131950
Epidermolysis bullosa simplex with pyloric atresia, 612138

OMIM

601282

Clinvar variants

Variants in PLEC

Penetrance

None

Publications

30847515

Panels with this gene