IDH1

isocitrate dehydrogenase (NADP(+)) 1
OMIM: 147700, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green IDH1 in Mendeliome


Version 2.0

1 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 2.0

1 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 1.0

1 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 1.0

0 reviews Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Green IDH1 in Mosaic skin disorders


Level 2: Dermatological disorders
Version 2.0

2 reviews 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 2.0

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