GNAI2

G protein subunit alpha i2
OMIM: 139360
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Syndromic intellectual disability
R-numbers: R15
Signed-off version 7.26
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodefficiency with multisystemic presentation