ITPA

inosine triphosphatase
OMIM: 147520, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green ITPA in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.307

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 Inborn errors of metabolism


Version 1.277

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 Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.336

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 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1039

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


Version 0.88

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Warburg Micro syndrome and Martsolf syndrome with variable cardiac manifestation
  • None