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  3. IDH3A
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Likely inborn error of metabolism

Gene: IDH3A

Amber List (moderate evidence)
IDH3A (isocitrate dehydrogenase 3 (NAD(+)) alpha)
EnsemblGeneIds (GRCh38): ENSG00000166411
EnsemblGeneIds (GRCh37): ENSG00000166411
OMIM: 601149, Gene2Phenotype
IDH3A is in 4 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on list classification: IDH3A has already been promoted to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/IDH3A/) as detailed in the below reviews copied from that panel.

As there is sufficient evidence available for the gene-disease association, this gene can be promoted to green rating on this panel in the next GMS update.
Created: 7 Jun 2025, 9:28 p.m. | Last Modified: 7 Jun 2025, 9:28 p.m.
Panel Version: 8.25
Created: 7 Jun 2025, 9:28 p.m.
Last Modified: 7 Jun 2025, 9:28 p.m.
Panel version: 8.25

Zornitza Stark (Australian Genomics)

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

Created: 20 Mar 2020, 7:30 a.m.
Last Modified: 20 Mar 2020, 7:30 a.m.
Copied from panel: Mitochondrial disorders v9.15

Sarah Leigh (Genomics England Curator)

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

Created: 23 Jul 2019, 10:13 a.m.
Last Modified: 23 Jul 2019, 10:13 a.m.
Copied from panel: Mitochondrial disorders v9.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Retinitis pigmentosa 90, OMIM:619007
  • retinitis pigmentosa 90, MONDO:0033563
Tags
Q2_25_ promote_green
OMIM
601149
Clinvar variants
Variants in IDH3A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jun 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: idh3a has been classified as Amber List (Moderate Evidence).

7 Jun 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: IDH3A.

7 Jun 2025, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: IDH3A was added gene: IDH3A was added to Likely inborn error of metabolism. 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 31012789; 30478029; 30058936; 28412069; 28058510 Phenotypes for gene: IDH3A were set to Retinitis pigmentosa 90, OMIM:619007; retinitis pigmentosa 90, MONDO:0033563