Retinal disorders

Gene: IDH3A

Green List (high evidence)

Associated with relevant phenotype in OMIM and as strong Gen2Phen gene. At least nine IDH3A variants have been reported in six unrelated cases of Retinitis pigmentosa 90, OMIM:619007. Mice homozygous for p.E229K variant exhibited signs of retinal stress, those who were compound heterozygous for p.E229K and Idh3a knockout, had more severe retinal degeneration and embryonic lethality was seen in Idh3a knockout mice; reduced mitochondrial function was seen in the equivalent cell lines (PMID: 30478029).

Created: 30 May 2023, 3:39 p.m. | Last Modified: 30 May 2023, 3:39 p.m.

Panel Version: 4.12

Green List (high evidence)

This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 28412069 reported on 7 individuals from 4 unrelated familes (Netherlands, Israel and South Africa) diagnosed have retinitis pigmentosa who have compound heterozygous/homozygous variants in IDHA3. PMID: 30478029 reported on a Idha3 mouse model that develops retinal degeneration. Therefore, there is enough evidence to promote this gene to green status.
Sources: Expert list

Created: 2 Aug 2019, 1:51 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis Pigmentosa; Pseudocoloboma

Publications

• 28412069
• 30478029