GNAI2

G protein subunit alpha i2
OMIM: 139360, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green GNAI2 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.88
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Immunodefficiency with multisystemic presentation
Green GNAI2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.181
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Syndromic developmental disorder
Green GNAI2 in Intellectual disability


Level 2: Developmental disorders
Version 9.345
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Syndromic intellectual disability