GNB5

G protein subunit beta 5
OMIM: 604447
PanelMode of inheritanceDetails
2 panels
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with cardiac arrhythmia, 617173, Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182, early infantile epileptic encephalopathy (EIEE)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182, Intellectual developmental disorder with cardiac arrhythmia, 617173