Mitochondrial disorders

Gene: IDH3A

Green List (high evidence)

Six unrelated families reported with retinitis pigmentosa. Mouse model.

Created: 20 Mar 2020, 7:30 a.m. | Last Modified: 20 Mar 2020, 7:30 a.m.

Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa

Publications

• 31012789
• 30478029
• 30058936
• 28412069

Green List (high evidence)

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 30 May 2023, 3:41 p.m. | Last Modified: 30 May 2023, 3:41 p.m.

Panel Version: 4.51

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, 3:38 p.m. | Last Modified: 30 May 2023, 3:38 p.m.

Panel Version: 4.50

Comment on phenotypes: Retinitis pigmentosa with macular pseudocoloboma; Infantile encephalopathy

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

Panel Version: 4.49

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.

Created: 23 Jul 2019, 10:13 a.m. | Last Modified: 23 Jul 2019, 10:13 a.m.

Panel Version: 1.412

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal