1. Genes and Genomic Entities
  2. GNB5

GNB5

G protein subunit beta 5
OMIM: 604447, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber GNB5 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
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Sinus Bradycardia and Cognitive Disability
Green GNB5 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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Sinus Bradycardia and Cognitive Disability
    Green GNB5 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    • Literature
    Phenotypes
    • Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173
    Green GNB5 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 Green
    • Literature
    • Expert Review
    • Literature
    Phenotypes
    • Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173
    • Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM:617182
    Green GNB5 in Cardiac arrhythmias - additional genes


    Level 2: Cardiology
    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cardiac arrhythmias

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with cardiac arrhythmia, OMIM:617173
    • Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM:617182