1. Genes and Genomic Entities
  2. CHRNE

CHRNE

cholinergic receptor nicotinic epsilon subunit
OMIM: 100725, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CHRNE in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

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, OMIM:605809
  • Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324
  • Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, OMIM:608931
Green CHRNE in Congenital myaesthenic syndrome


Level 2: Neurology
Version 5.7
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare 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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    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
    Red CHRNE in Paediatric pseudo-obstruction syndrome


    Level 2: Gastrohepatology
    Version 2.5
    Latest signed off version: v2.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    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