This Panel is marked as Internal
Anaemias and red cell disorders
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
1 review
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Acute myeloid leukaemia (AML)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Phenotypes
-
- Acute myeloid leukaemia (AML)
- OMIM
- 147650
- Clinvar variants
- Variants in IDH2
- Penetrance
- Complete
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cytopenias and congenital anaemias
- Vascular skin disorders
- Early onset or syndromic epilepsy
- Mosaic skin disorders - deep sequencing
- Dilated Cardiomyopathy and conduction defects
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
History Filter Activity
16 Jan 2017, Gel status: 0
Approved Gene
Louise Daugherty (Genomics England Curator)This proposed gene was validated and added to this panel
16 Jan 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)IDH2 was created by BRIDGE
16 Jan 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)IDH2 was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)