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Severe Paediatric Disorders

Gene: GNAI1

Green List (high evidence)

GNAI1 (G protein subunit alpha i1)
EnsemblGeneIds (GRCh38): ENSG00000127955
EnsemblGeneIds (GRCh37): ENSG00000127955
OMIM: 139310, Gene2Phenotype
GNAI1 is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: GNAI1; Recommended initial gene rating: Green List (high evidence); Phenotypes: GNAI1 syndrome; Mode of inheritance:
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854
OMIM
139310
Clinvar variants
Variants in GNAI1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jun 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GNAI1 were changed from GNAI1 syndrome to Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, OMIM:619854

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene GNAI1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinte