1. Genes and Genomic Entities
  2. IDH2

IDH2

isocitrate dehydrogenase (NADP(+)) 2, mitochondrial
OMIM: 147650, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green IDH2 in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.85

review 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
Red IDH2 in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.118

review Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
  • somatic
Green IDH2 in Mosaic skin disorders - deep sequencing


Version 2.47
Latest signed off version: v2.0 (30 Nov 2022)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Ollier disease
  • Maffucci syndrome
Red IDH2 in Vascular skin disorders


Version 1.63
Latest signed off version: v1.3 (15 Oct 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Ollier disease
  • Maffucci syndrome
Red IDH2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Other
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • D-2-hydroxyglutaric aciduria 2, OMIM:613657
    • d-2-hydroxyglutaric aciduria 2, MONDO:0013345
    Tags
    • somatic
    Green IDH2 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias)
    • D-2-hydroxyglutaric aciduria 2, 613657
    Tags
    • mosaicism
    Green IDH2 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review 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
    Red IDH2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.196
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review
    Phenotypes
    • D-2-hydroxyglutaric aciduria 2, 613657
    Green IDH2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • D-2-hydroxyglutaric aciduria 2 613657
    Green IDH2 in Paediatric or syndromic cardiomyopathy


    Version 3.47
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review 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
    Red IDH2 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green IDH2 in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • D-2-hydroxyglutaric aciduria 2, 613657