CHRNB1

cholinergic receptor nicotinic beta 1 subunit
OMIM: 100710, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green CHRNB1 in Other rare neuromuscular disorders


Version 19.199
Latest signed off version: v19.1 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
  • Myasthenic syndrome, congenital, 2A, slow-channel, 616313
  • fast channel myasthenic syndrome
  • Myasthenic syndrome, slow-channel congenital, 601462
  • Acetylcholine receptor deficiency syndrome
  • Slow channel myasthenic syndrome
  • Congenital Myasthenic Syndrome, Dominant/Recessive
Green CHRNB1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Congenital Myasthenic Syndrome, Dominant/Recessive
  • Myasthenic syndrome, slow-channel congenital, 601462
Green CHRNB1 in Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

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
    • UKGTN
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, OMIM:616314
    • Myasthenic syndrome, congenital, 2A, slow-channel, OMIM:616313
    Tags
    • deletions
    Green CHRNB1 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 2A, slow-channel, 616313
    • ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314
    Green CHRNB1 in DDG2P


    Version 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CHRNB1-related congenital myaesthenia, biallelic, OMIM:616314
    • CHRNB1-related congenital myaesthenia, monoallelic, OMIM:616313
    Green CHRNB1 in Severe Paediatric Disorders


    Version 1.182

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 2A, slow-channel, 616313
    • ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314