1. Genes and Genomic Entities
  2. CHRNG

CHRNG

cholinergic receptor nicotinic gamma subunit
OMIM: 100730, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
No list CHRNG in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.95

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


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Escobar syndrome 265000
  • Multiple pterygium syndrome, lethal type 253290
  • Myasthenia gravis, neonatal transient (2)
Green CHRNG 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • transient neonatal myasthenia gravis, MONDO:0018326
    Green CHRNG in Fetal anomalies


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

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT
    Green CHRNG in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MULTIPLE PTERYGIUM SYNDROME ESCOBAR VARIANT 265000
    Green CHRNG in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Escobar syndrome, 265000
    • MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE
    • Multiple pterygium syndrome, lethal type, 253290
    • PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE
    Red CHRNG in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Myasthenia gravis, neonatal transient
    • Escobar syndrome, 265000
    • Multiple pterygium syndrome, lethal type, 253290