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Mitochondrial disease

Gene: IDH3B

Amber List (moderate evidence)

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

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

History Filter Activity

17 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: idh3b has been classified as Amber List (Moderate Evidence).

17 Mar 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IDH3B were changed from to Retinitis pigmentosa 46, MIM# 612572

17 Mar 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: IDH3B were set to

17 Mar 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: IDH3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: idh3b has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IDH3B was added gene: IDH3B was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: IDH3B was set to Unknown