GNB5

G protein subunit beta 5
OMIM: 604447, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Amber GNB5 in Fetal anomalies


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

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Sinus Bradycardia and Cognitive Disability
Green GNB5 in DDG2P


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

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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.173
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    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


    Version 3.3
    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
    Green GNB5 in Severe Paediatric Disorders


    Version 1.182

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Intellectual developmental disorder with cardiac arrhythmia, 617173
    • Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182