PanelApp (staging)
  1. Genes and Genomic Entities
  2. CHRNB1

CHRNB1

cholinergic receptor nicotinic beta 1 subunit
OMIM: 100710, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CHRNB1 in Arthrogryposis


Level 2: Neurology and neurodevelopmental disorders
Version 0.416

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313
  • Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314

Green CHRNB1 in Mendeliome


Version 1.2302

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313
  • Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314

Green CHRNB1 in Congenital Myasthenia


Level 2: Neurology and neurodevelopmental disorders
Version 1.10

Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Myasthenic syndrome, slow-channel congenital, 601462
    • Myasthenic syndrome, congenital, 2A, slow-channel, 616313
    • ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314

    Red CHRNB1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Congenital myasthenic syndrome

    Green CHRNB1 in Congenital ophthalmoplegia


    Level 2: Ophthalmological disorders
    Version 1.8

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myasthenic syndrome, congenital, 2A, slow-channel, MIM# 616313

    Green CHRNB1 in Fetal anomalies


    Version 1.313

    		1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313
    • Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314

    Green CHRNB1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category C gene
    • BeginNGS
    Phenotypes
    • Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314
    • Congenital myasthenic syndrome
    Tags
    • treatable
    • neurological