Mitochondrial disease
Gene: IDH3B

IDH3B (isocitrate dehydrogenase 3 (NAD(+)) beta)
EnsemblGeneIds (GRCh38): ENSG00000101365
EnsemblGeneIds (GRCh37): ENSG00000101365
OMIM: 604526, Gene2Phenotype
IDH3B is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

The IDH3B gene encodes the beta subunit of nicotinamide adenine dinucleotide-specific isocitrate dehydrogenase (NAD-IDH), which catalyzes the oxidation of isocitrate to alpha-ketoglutarate in the citric acid cycle. Two unrelated families reported in 2008, and a further report in 2020 as part of a large Mexican cohort. Phenotype appears restricted to retinitis pigmentosa only.
Created: 17 Mar 2020, 10:51 p.m. | Last Modified: 17 Mar 2020, 10:51 p.m.

Panel Version: 0.130

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 46, MIM# 612572

Publications

Created: 17 Mar 2020, 10:51 p.m.
Last Modified: 17 Mar 2020, 10:51 p.m.
Panel version: 0.130

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Mitochondrial Flagship

Phenotypes

Retinitis pigmentosa 46, MIM# 612572

OMIM

604526

Clinvar variants

Variants in IDH3B

Penetrance

None

Publications

Panels with this gene