ENTPD1

ectonucleoside triphosphate diphosphohydrolase 1
OMIM: 601752, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ENTPD1 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 64, autosomal recessive MIM#615683

Green ENTPD1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 64, autosomal recessive, MIM# 615683

Green ENTPD1 in Leukodystrophy - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 0.318

Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Spastic paraplegia 64, autosomal recessive, MIM# 615683

    Green ENTPD1 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia 64, autosomal recessive MIM#615683