Mitochondrial disorders
Gene: IDH3A
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
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 encephalopathyCreated: 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
Tag Q2_23_promote_green was removed from gene: IDH3A.
Source Expert Review Green was added to IDH3A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: idh3a has been classified as Amber List (Moderate Evidence).
Tag Q2_23_promote_green tag was added to gene: IDH3A.
Publications for gene: IDH3A were set to 28412069; 28058510
Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa with macular pseudocoloboma; Infantile encephalopathy to Retinitis pigmentosa 90, OMIM:619007; retinitis pigmentosa 90, MONDO:0033563
Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa with macular pseudocoloboma; Infantile encephalopathy to Retinitis pigmentosa with macular pseudocoloboma; Infantile encephalopathy
gene: IDH3A was added gene: IDH3A was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDH3A were set to 28412069; 28058510 Phenotypes for gene: IDH3A were set to Retinitis pigmentosa with macular pseudocoloboma; Infantile encephalopathy