Ocular and oculo-cutaneous albinism

Gene: GNAI3

Red List (low evidence)

GNAI3 (G protein subunit alpha i3)
EnsemblGeneIds (GRCh38): ENSG00000065135
EnsemblGeneIds (GRCh37): ENSG00000065135
OMIM: 139370, Gene2Phenotype
GNAI3 is in 9 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

Candidate gene for ocular albinism reported in PMID: 27607449. The study involved comparison of GNAI3 gene sequences from 26 patients with ocular albinism who were negative for OA1 variants, and 6 healthy controls. Many variants were identified accross the gene, and though some were not found in the control group, comparison with allele frequencies in available databases such as ExAC was not reported in order to determine whether the variants uniquely found in the patients were rare. No comparisons with family members was reported, therefore segregation with the disease was not confirmed. 6 variants were reported as have likely functional effects due to computation prediction. No in vitro functional work was done to confirm the functional effect of the variants, only computational modelling.
Created: 21 Dec 2016, 12:51 p.m.

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Proposed new gene for Ocular Albinism
Created: 15 Sep 2016, 1:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Auriculocondylar syndrome 1 602483

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • Auriculocondylar syndrome 1 602483
OMIM
139370
Clinvar variants
Variants in GNAI3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Sep 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

GNAI3 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Literature

15 Sep 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GNAI3 was created by sleigh