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Fetal anomalies

Gene: GNAI1

Amber List (moderate evidence)

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Comment when marking as ready: Marked GNAI1 as ready following clinical review, and review of evidence. April 29th 2019.
Created: 29 Apr 2019, 2:57 p.m.
This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Demote from Green to Amber due to limited evidence (unpublished, Decipher only).
Created: 29 Apr 2019, 12:28 p.m.
DDG2P rating in original PAGE list: Confirmed for GNAI1 syndrome. Mode of inheritance: Monoallelic. Mode of pathogenicity: Loss of function.
Created: 11 Dec 2018, 9:05 a.m.


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • GNAI1 syndrome
Clinvar variants
Variants in GNAI1
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: gnai1 has been classified as Amber List (Moderate Evidence).

29 Apr 2019, Gel status: 2

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Amber was added to GNAI1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: GNAI1 was added gene: GNAI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GNAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAI1 were set to GNAI1 syndrome