PanelApp (staging)
  1. Genes and Genomic Entities
  2. ITPA

ITPA

inosine triphosphatase
OMIM: 147520, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber ITPA in Cataract


Level 2: Ophthalmological disorders
Version 0.373

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Epileptic encephalopathy, early infantile, 35, MIM# 616647

Green ITPA in Mendeliome


Version 1.2302

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Inosine triphosphatase deficiency MIM#613850
  • Developmental and epileptic encephalopathy 35 MIM#616647

Green ITPA in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.108

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Developmental and epileptic encephalopathy 35, MIM# 616647

    Green ITPA in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.63

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Developmental and epileptic encephalopathy 35, MIM# 616647

    Green ITPA in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.48

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Inosine triphosphatase deficiency MIM#613850
    • Developmental and epileptic encephalopathy 35 MIM#616647
    • Disorders of purine metabolism

    Green ITPA in Nucleotide metabolism disorders


    Level 2: Metabolic disorders
    Version 0.5

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Disorders of purine metabolism
    • Inosine triphosphatase deficiency MIM#613850
    • Developmental and epileptic encephalopathy 35 MIM#616647