1. Genes and Genomic Entities
  2. ITPA

ITPA

inosine triphosphatase
OMIM: 147520, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ITPA in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.645

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Inosine triphosphatase deficiency (Disorders of purine metabolism)
  • Epileptic encephalopathy, early infantile, 35, 616647
  • [Inosine triphosphatase deficiency], 613850
Green ITPA in Likely inborn error of metabolism


Level 2: Metabolic
Version 9.4
Latest signed off version: v9.0 (6 May 2026)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Inosine triphosphatase deficiency (Disorders of purine metabolism)
    • Epileptic encephalopathy, early infantile, 35, 616647
    • [Inosine triphosphatase deficiency], 613850
    Green ITPA in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.7
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review
    • Expert Review Green
    Phenotypes
    • Epileptic encephalopathy, early infantile, 35, 616647
    Green ITPA in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 35, 616647
    Red ITPA in Structural eye disease


    Level 2: Ophthalmology
    Version 5.5
    Latest signed off version: v5.0 (6 May 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    Phenotypes
    • Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation
    • None
    Red ITPA in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 8.3
    Latest signed off version: v8.0 (6 May 2026)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH