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Inborn errors of metabolism

Gene: IDH2

Green List (high evidence)

IDH2 (isocitrate dehydrogenase (NADP(+)) 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000182054
EnsemblGeneIds (GRCh37): ENSG00000182054
OMIM: 147650, Gene2Phenotype
IDH2 is in 11 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Changed from 'other' to monoallelic, due to reports of heterozygous variants to enable variants in this gene to be tiered.
Created: 5 May 2017, 7:45 a.m.

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

>3 cases including PMID:20847235 who detected heterozygous germline variants in IDH2 that alter Arg140 in 15 unrelated patients with MIM:613657; in 14 cases the variant was de novo. The mother of 1 patient demonstrated germline mosaicism. PMID:24049096 also report a heterozygous IDH2 and the unaffected mother was a mosaic carrier. Somatic variants also reported.
Created: 23 Feb 2017, 5:14 p.m.

Mode of inheritance
Other - please specify in evaluation comments

Phenotypes
D-2-hydroxyglutaric aciduria 2, 613657

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias)
  • D-2-hydroxyglutaric aciduria 2, 613657
OMIM
147650
Clinvar variants
Variants in IDH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to IDH2. Source London North GLH was added to IDH2.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: IDH2 was added gene: IDH2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IDH2 were set to 24049096; 20847235 Phenotypes for gene: IDH2 were set to Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2, 613657