PanelApp
  1. Genes and Genomic Entities
  2. MDH2

MDH2

malate dehydrogenase 2
OMIM: 154100, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green MDH2 in Mendeliome


Version 1.3512

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental and epileptic encephalopathy 51 MIM#617339

Green MDH2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.267

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Developmental and epileptic encephalopathy 51 MIM#617339

    Green MDH2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green

    Green MDH2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Developmental and epileptic encephalopathy 51 MIM#617339

    Red MDH2 in Fetal anomalies


    Version 1.465

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Developmental and epileptic encephalopathy 51 MIM#617339

    Red MDH2 in Paraganglioma_phaeochromocytoma


    Level 2: Cancer Predisposition
    Version 1.1

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    • Expert Review
    • Expert list
    Phenotypes
    • Paraganglioma, MONDO:0000448
    • Pheochromocytoma, MONDO:0008233
    • Pheochromocytoma/paraganglioma, susceptibility to, no MIM#
    • Developmental and epileptic encephalopathy 51, MIM#617339