Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: GNAI2EnsemblGeneIds (GRCh38): ENSG00000114353
EnsemblGeneIds (GRCh37): ENSG00000114353
OMIM: 139360, Gene2Phenotype
GNAI2 is in 3 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 24 Feb 2025, 12:01 p.m. | Last Modified: 24 Feb 2025, 12:01 p.m.
Panel Version: 7.26
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arina Puzriakova (Genomics England Curator)
Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update. Immunodeficiency/immunodysregulation was the most common feature reported in patients with pathogenic GNAI2 variants, supporting inclusion on this panel.Created: 15 Nov 2024, 10:18 a.m. | Last Modified: 15 Nov 2024, 10:18 a.m.
Panel Version: 7.17
- PMID: 39298586 (2024) - 20 individuals from 18 unrelated families with heterozygous GOF missense variants in GNAI2 and highly heterogenous clinical presentations. Most commonly observed was disruption of the immune system, with almost 90% of cases exhibiting recurrent, unusual, and/or severe infections. Other features include birth defects, growth abnormalities, neurodevelopmental delay progressing to ID at later stages, brain structural abnormalities and various dysmorphic features. Authors dubbed the syndromic disorder with the acronym MAGIS - Midline malformations of the brain,
Anterior hypopituitarism, Growth retardation, Immunodeficiency/immunodysregulation, Skeletal
abnormalities.Created: 15 Nov 2024, 10:03 a.m. | Last Modified: 15 Nov 2024, 10:03 a.m.
Panel Version: 7.15
Publications
Dmitrijs Rots (Children's Clinical University Hospital)
PMID: 39298586 showed 20 case with "multiorgan dysfunction, with a spectrum of birth defects involving brain, endocrine, skeletal, and other systems. Prominent immune dysregulation resulted from increased infection susceptibility—caused by impaired GPCR signaling for migration of T cells and neutrophils—and life-threatening autoimmunity with T cell hyperresponsiveness." and functional work.
Sources: LiteratureCreated: 18 Oct 2024, 12:33 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Immunodefficiency with multisystemic presentation
Publications
- PMID: 39298586
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Immunodefficiency with multisystemic presentation
- OMIM
- 139360
- Clinvar variants
- Variants in GNAI2
- Penetrance
- unknown
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: GNAI2.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to GNAI2. Source Expert Review Green was added to GNAI2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: gnai2 has been classified as Amber List (Moderate Evidence).
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: GNAI2 were set to PMID: 39298586
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: GNAI2.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Dmitrijs Rots (Children's Clinical University Hospital)gene: GNAI2 was added gene: GNAI2 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNAI2 were set to PMID: 39298586 Phenotypes for gene: GNAI2 were set to Immunodefficiency with multisystemic presentation Penetrance for gene: GNAI2 were set to unknown Mode of pathogenicity for gene: GNAI2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments