PanelApp (stage)
  1. Genes and Genomic Entities
  2. MDH1

MDH1

malate dehydrogenase 1
OMIM: 154200, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber MDH1 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • epilepsy
  • microcephaly
  • intellectual disability
  • Epileptic encephalopathy, early infantile, 88, MIM#618959Epileptic encephalopathy, early infantile, 88, MIM#618959

Amber MDH1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • epilepsy
    • microcephaly
    • intellectual disability
    • Epileptic encephalopathy, early infantile, 88, MIM#618959