PLEC

plectin
OMIM: 601282, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Red PLEC in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.3

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • PLEC-related Epidermolysis Bullosa
  • Epidermolysis bullosa simplex with pyloric atresia, 612138
  • Epidermolysis bullosa simplex with muscular dystrophy, 226670
  • Epidermolysis bullosa simplex, Ogna type, 131950
  • scarring alopecia

Green PLEC in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.6

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Epidermolysis bullosa simplex, Ogna type (AD), 131950
  • Epidermolysis bullosa simplex including Ogna variant
  • Epidermolysis Bullosa Simplex, Ogna Type
  • Epidermolysis bullosa simplex with pyloric atresia (AR), 612138
  • Epidermolysis bullosa simplex with pyloric atresia
  • Epidermolysis Bullosa Simplex With Pyloric Atresia
  • Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670
  • Epidermolysis Bullosa with Muscular Dystrophy
  • Epidermolysis Bullosa Simplex With Muscular Dystrophy

Green PLEC in Neuromuscular disorders


Version 5.234
Latest signed off version: v5.43 (4 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Plectin deficiency
  • myasthenic syndrome
  • Limb-girdle muscular dystrophy
  • Congenital myasthenic syndrome
  • Muscular dystrophy with epidermolysis bullosa simplex, 226670
  • Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)

Green PLEC in Epidermolysis bullosa and congenital skin fragility


Version 1.49
Latest signed off version: v1.3 (15 Oct 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex, Ogna type (AD), OMIM:131950
  • Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670
  • Epidermolysis bullosa simplex with pyloric atresia (AR), OMIM:612138

Red PLEC in Ectodermal dysplasia


Version 1.26
Latest signed off version: v1.10 (15 Oct 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • PLEC-related Epidermolysis Bullosa
  • Epidermolysis bullosa simplex, Ogna type, 131950
  • scarring alopecia
  • Epidermolysis bullosa simplex with muscular dystrophy, 226670
  • Epidermolysis bullosa simplex with pyloric atresia, 612138

Green PLEC in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.16
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review 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

    Red PLEC in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.122
    Latest signed off version: v3.2 (13 Feb 2020)

    review 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

    Green PLEC in Congenital myaesthenic syndrome

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.38
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital myasthenic syndrome
    • Plectin deficiency
    • Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)
    Tags
    • monogenic-polygenic

    Green PLEC in Limb girdle muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.25
    Latest signed off version: v2.4 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Muscular dystrophy with epidermolysis bullosa simplex, 226670
    • Limb-girdle muscular dystrophy

    Red PLEC in DDG2P


    Version 2.46
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 613723
    • EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA 612138

    Red PLEC in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1306
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Muscular dystrophy with epidermolysis bullosa simplex, 226670
    • Epidermolysis bullosa simplex, Ogna type, 131950
    • Epidermolysis bullosa simplex with pyloric atresia, 612138
    • Muscular dystrophy, limb-girdle, type 2Q, 613723

    Green PLEC in Severe Paediatric Disorders


    Version 1.84

    review 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