PanelApp (stage)
  1. Genes and Genomic Entities
  2. IDH2

IDH2

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green IDH2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • D-2-hydroxyglutaric aciduria 2, MIM# 613657

Green IDH2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • D-2-hydroxyglutaric aciduria 2, MIM# 613657

    Green IDH2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review Green
    • Literature
    • Victorian Clinical Genetics Services
    Phenotypes
    • D-2-hydroxyglutaric aciduria 2 MIM#613657

    Green IDH2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Red IDH2 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    		review Unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • D-2-hydroxyglutaric aciduria 2 613657
    • Ollier disease/ Dyschondroplasia 166000
    • Maffucci syndrome 614569
    • Enchondromatosis (Ollier) and Enchondromatosis with hermangiomata (Maffucci) 166000, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (614875)

    Green IDH2 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    Phenotypes
    • D-2-hydroxyglutaric aciduria 2, 613657
    • Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias)
    • D-2-hydroxyglutaric aciduria 2

    Green IDH2 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green IDH2 in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • Maffucci syndrome
    • Ollier disease
    Tags
    • somatic