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  3. IDH2
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Mitochondrial disease

Gene: IDH2

Green List (high evidence)
IDH2 (isocitrate dehydrogenase (NADP(+)) 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000182054
EnsemblGeneIds (GRCh37): ENSG00000182054
OMIM: 147650, Gene2Phenotype
IDH2 is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

17 individuals with a de novo or inherited from a mosaic carrier (R140G, R140Q) variants have been reported. Loss of IDH2 induces mitochondrial dysfunction in a mouse model.
Created: 15 Mar 2022, 6:01 a.m. | Last Modified: 15 Mar 2022, 6:01 a.m.
Panel Version: 0.11408

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
D-2-hydroxyglutaric aciduria 2, MIM# 613657

Publications

Created: 15 Mar 2022, 6:01 a.m.
Last Modified: 15 Mar 2022, 6:01 a.m.
Panel version: Imported from Mendeliome panel version 0.11408

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Loss of IDH2 induces mitochondrial dysfunction in a mouse model. 17 cases with a de novo or inherited from a mosaic carrier (R140G, R140Q) have been reported.
Sources: Literature
Created: 21 Mar 2020, 9:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
D-2-hydroxyglutaric aciduria 2 MIM#613657

Publications

Created: 21 Mar 2020, 9:43 a.m.

Panel version: 0.285

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • D-2-hydroxyglutaric aciduria 2 MIM#613657
OMIM
147650
Clinvar variants
Variants in IDH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: idh2 has been classified as Green List (High Evidence).

21 Mar 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: idh2 has been classified as Green List (High Evidence).

21 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: IDH2 was added gene: IDH2 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IDH2 were set to 25778941; 27142242; 20847235; 24049096 Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2 MIM#613657 Review for gene: IDH2 was set to GREEN