Paediatric or syndromic cardiomyopathy
Gene: IDH2
IDH2 (isocitrate dehydrogenase (NADP(+)) 2, mitochondrial)
EnsemblGeneIds (GRCh38): ENSG00000182054
EnsemblGeneIds (GRCh37): ENSG00000182054
OMIM: 147650, Gene2Phenotype
IDH2 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000182054
EnsemblGeneIds (GRCh37): ENSG00000182054
OMIM: 147650, Gene2Phenotype
IDH2 is in 12 panels
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Rebecca Whittington (South West GLH)
D-2-hydroxyglutaric aciduria 2 OMIM:613657Created: 25 Mar 2019, 4:30 p.m.
Nota (J Med Genet. 2013 Nov;50(11):754-9. doi: 10.1136/jmedgenet-2013-101961) - two paediatric cases where first signs picked up prenatally on ultrasound, one of the two died of cardiac failure age 8 years. Kranendijk J Med Genet. 2013 Nov;50(11):754-9. doi: 10.1136/jmedgenet-2013-101961. - Variant at 140 assoc with this disorder. Note on HGMD only two variants in same nucleotide described. Akbay states Cardiomyopathy requiring treatment is frequently observed in type II D2HGA patients (Kranendijk et al. 2010b, 2012). Note: 14 patients described in Kranendijk 2010 - 13 arisen denovo for the same variant Arg140Gln and also reported Arg140Gly in a patient.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Green
- Phenotypes
-
- Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias)
- D-2-hydroxyglutaric aciduria 2
- D-2-hydroxyglutaric aciduria 2, 613657
- OMIM
- 147650
- Clinvar variants
- Variants in IDH2
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Cytopenias and congenital anaemias
- Vascular skin disorders
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Mosaic skin disorders - deep sequencing
- Early onset or syndromic epilepsy
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Fetal anomalies
History Filter Activity
2 Dec 2019, Gel status: 3
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to IDH2.
4 Sep 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: IDH2 was added gene: IDH2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IDH2 were set to 20847235; 24049096 Phenotypes for gene: IDH2 were set to Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias); D-2-hydroxyglutaric aciduria 2; D-2-hydroxyglutaric aciduria 2, 613657