PanelApp (stage)
  1. Genes and Genomic Entities
  2. IDH1

IDH1

isocitrate dehydrogenase (NADP(+)) 1, cytosolic
OMIM: 147700, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green IDH1 in Mendeliome


Version 1.1891

review Other
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ollier disease MONDO:0008145
  • Maffucci syndrome MONDO:0013808
Tags
  • somatic

Red IDH1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review Other
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Ollier disease MONDO:0008145
    • Maffucci syndromeMONDO:0013808

    Green IDH1 in Skeletal dysplasia

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

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Ollier disease/ Dyschondroplasia 166000
    • Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875
    • Maffucci syndrome 614569

    Green IDH1 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green IDH1 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

    Red IDH1 in Fetal anomalies


    Version 1.255

    		review Other
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Ollier disease MONDO:0008145
    • Maffucci syndrome MONDO:0013808