Dilated Cardiomyopathy and conduction defects
Gene: IDH2EnsemblGeneIds (GRCh38): ENSG00000182054
EnsemblGeneIds (GRCh37): ENSG00000182054
OMIM: 147650, Gene2Phenotype
IDH2 is in 12 panels
4 reviews
Rebecca Whittington (South West GLH)
D-2-hydroxyglutaric aciduria 2 OMIM:613657Created: 25 Mar 2019, 4:30 p.m.
A feature can be dilated cardiomyopathy. 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.
Paediatric onset only - paediatric panelCreated: 25 Mar 2019, 4:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Not fully reviewed however doesn't appear to be associated with primary non-syndromic teen/adult onset DCM.Created: 17 Jan 2019, 5:41 p.m.
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, 7:40 a.m.
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: >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: 20 Mar 2017, 12:23 p.m.
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.Created: 20 Mar 2017, 12:22 p.m.
Mode of inheritance
Other
Phenotypes
D-2-hydroxyglutaric aciduria 2 613657
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Wessex and West Midlands GLH
- Expert Review Green
- Expert Review
- Phenotypes
-
- D-2-hydroxyglutaric aciduria 2 613657
- OMIM
- 147650
- Clinvar variants
- Variants in IDH2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- Vascular skin disorders
- Mosaic skin disorders - deep sequencing
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to IDH2. Mode of inheritance for gene IDH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source, Status Update
Ellen McDonagh (Genomics England Curator)Source Wessex and West Midlands GLH was added to IDH2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IDH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IDH2 were set to 20847235;24049096
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for IDH2 was changed to Other - please specifiy in evaluation comments
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Sarah Leigh (Genomics England Curator)IDH2 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)IDH2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert Review