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Retinal disorders

Gene: IDH3G

Green List (high evidence)
IDH3G (isocitrate dehydrogenase 3 (NAD(+)) gamma)
EnsemblGeneIds (GRCh38): ENSG00000067829
EnsemblGeneIds (GRCh37): ENSG00000067829
OMIM: 300089, Gene2Phenotype
IDH3G is in 1 panel

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: OMIM phenotype accessed on 11 March 2026
Created: 11 Mar 2026, 4:42 p.m. | Last Modified: 11 Mar 2026, 4:42 p.m.
Panel Version: 8.98
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 11 Mar 2026, 1:02 p.m. | Last Modified: 11 Mar 2026, 1:02 p.m.
Panel Version: 8.97
Created: 11 Mar 2026, 1:02 p.m.
Last Modified: 11 Mar 2026, 1:02 p.m.
Panel version: 8.97

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

PMID: 40119724 reports four hemizygous IDH3G single nucleotide variants (SNVs) in males with a X-linked retinitis pigmentosa. A further case was reported with a 25kb deletion, which encompassed the entire IDH3G gene, but also included PLXNB3 and SRPK3 genes. In all cases the IDH3G variant segregated with the disease, this was confirmed by sequencing in two of the families (figure 1 in PMID: 40119724). Functional studies showed that the IDH3G SNVs reduced expression of the IDH3G.
Sources: Literature
Created: 26 Mar 2025, 2:29 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
X-linked retinitis pigmentosa

Publications

Created: 26 Mar 2025, 2:29 p.m.

Panel version: 7.20

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Retinitis pigmentosa 99, OMIM:301148, retinitis pigmentosa 99, MONDO:0978291
OMIM
300089
Clinvar variants
Variants in IDH3G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Mar 2026, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: IDH3G were changed from X-linked retinitis pigmentosa to Retinitis pigmentosa 99, OMIM:301148, retinitis pigmentosa 99, MONDO:0978291

11 Mar 2026, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q1_25_ promote_green was removed from gene: IDH3G.

11 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to IDH3G. Source Expert Review Green was added to IDH3G. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

26 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: idh3g has been classified as Amber List (Moderate Evidence).

26 Mar 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: IDH3G was added gene: IDH3G was added to Retinal disorders. Sources: Literature Q1_25_ promote_green tags were added to gene: IDH3G. Mode of inheritance for gene: IDH3G was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: IDH3G were set to 40119724 Phenotypes for gene: IDH3G were set to X-linked retinitis pigmentosa Review for gene: IDH3G was set to GREEN