1. Genes and Genomic Entities
  2. CHRNA1

CHRNA1

cholinergic receptor nicotinic alpha 1 subunit
OMIM: 100690, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
No list CHRNA1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.64

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Multiple pterygium syndrome, lethal type, MIM#253290
Green CHRNA1 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Congenital Myasthenic Syndrome, Dominant/Recessive
  • Myasthenic syndrome, slow-channel congenital, 601462Myasthenic syndrome, fast-channel congenital, 608930Multiple pterygium syndrome, lethal type, 253290
Green CHRNA1 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 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, 1A, slow-channel, OMIM:601462
    • Myasthenic syndrome, congenital, 1B, fast-channel, OMIM:608930
    Green CHRNA1 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE
    • Multiple pterygium syndrome, lethal type, 253290
    Green CHRNA1 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
    • MULTIPLE PTERYGIUM SYNDROME LETHAL TYPE 253290
    Green CHRNA1 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
    • Multiple pterygium syndrome, lethal type, 253290
    • Myasthenic syndrome, congenital, 1B, fast-channel, 608930
    • Myasthenic syndrome, congenital, 1A, slow-channel, 601462