Ocular and oculo-cutaneous albinismGene: GNAI3
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.
Proposed new gene for Ocular Albinism
Created: 15 Sep 2016, 1:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Auriculocondylar syndrome 1 602483
GNAI3 was added to Ocular and oculo-cutaneous albinismpanel. Sources: Literature
GNAI3 was created by sleigh