CHRNE

cholinergic receptor nicotinic epsilon subunit
OMIM: 100725, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CHRNE in Neuromuscular disorders


Version 5.352
Latest signed off version: v5.43 (4 Mar 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 4B, fast-channel, 616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
  • Myasthenic syndrome, congenital, 4A, slow-channel, 605809
  • fast channel myasthenic syndrome
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Acetylcholine receptor deficiency syndrome
  • Reduced channel conductance syndrome
  • Slow channel myasthenic syndrome
  • Congenital Myasthenic Syndrome, Dominant/Recessive

Green CHRNE in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2 (13 Feb 2020)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 4A, slow-channel 605809
  • Myasthenic syndrome, congenital, 4B, fast-channel 616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency 608931

Green CHRNE in Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.40
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Myasthenic syndrome, congenital, 4A, slow-channel, OMIM:605809
    • Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324
    • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931

    Green CHRNE in Fetal anomalies


    Version 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 4A, slow-channel, 605809
    • Myasthenic syndrome, congenital, 4B, fast-channel, 616324
    • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931

    Green CHRNE in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 4B, fast-channel, 616324
    • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931
    • Myasthenic syndrome, congenital, 4A, slow-channel, 605809