Possible mitochondrial disorder - nuclear genes
Gene: IDH3A
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: 3.29
Consensus opinion from the 3 specialist mitochondrial providers.Created: 31 Jul 2023, 10:04 a.m. | Last Modified: 31 Jul 2023, 10:04 a.m.
Panel Version: 3.33
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: Multiple unrelated families; discussed & agreed that this should be included within 'primary mitochondrial disease'Created: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Infantile encephalopathy; 619007 Retinitis pigmentosa 90
Publications
Comment on list classification: This gene is not associated with a disease in OMIM. One of the publications for the association given is PMID: 28412069, reporting patients with retinitis pigments accompanied by Pseudocoloboma therefore unsure if appropriate for the mitochondrial disorders panel but after feedback from the Genomics England Clinical Team should be considered for the retinal dystrophy panel. Feedback from the Genomics England clinical team was to make this Amber on the mitochondrial panels due to all but one case (reported in PMID: 28058510) are organ-specific.Created: 5 Jun 2019, 1:18 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 4:04 p.m.
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: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinitis pigmentosa with macular pseudocoloboma; Infantile encephalopathy
Publications
Tag Q3_23_NHS_review tag was added to gene: IDH3A.
Tag Q2_23_promote_green tag was added to gene: IDH3A.
Tag Q2_23_promote_green was removed from gene: IDH3A.
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 Infantile encephalopathy; Retinitis pigmentosa with macular pseudocoloboma to Retinitis pigmentosa 90, OMIM:619007; retinitis pigmentosa 90, MONDO:0033563
Gene: idh3a has been classified as Amber List (Moderate Evidence).
Gene: idh3a has been classified as Amber List (Moderate Evidence).
gene: IDH3A was added gene: IDH3A was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS 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 Infantile encephalopathy; Retinitis pigmentosa with macular pseudocoloboma