PLEC

plectin
OMIM: 601282, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red PLEC in Familial cicatricial alopecia

Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.5

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487
  • Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
  • Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138
Green PLEC in Epidermolysis bullosa

Level 3: Skin fragility disorders
Level 2: Dermatological disorders
Version 1.11

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 5D, generalized intermediate, autosomal recessive , OMIM:616487
  • Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
  • Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138
Green PLEC in Epidermolysis bullosa and congenital skin fragility


Version 2.7
Latest signed off version: v2.2 (22 Mar 2023)

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 3.29
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487
  • Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950
  • Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
  • Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138
Green PLEC in Congenital muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.24
Latest signed off version: v4.23 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London South GLH
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723
    • Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
    Red PLEC in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.7
    Latest signed off version: v6.0 (1 May 2024)

    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 4.6
    Latest signed off version: v4.5 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Literature
    Phenotypes
    • Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
    Tags
    • monogenic-polygenic
    Green PLEC in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.33
    Latest signed off version: v4.32 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review 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
    Green PLEC in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    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 6.21
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive, OMIM:616487
    • Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950
    • Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
    • Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138
    • Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723
    Green PLEC in Severe Paediatric Disorders


    Version 1.184

    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