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  3. ITPA
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Nucleotide metabolism disorders

Gene: ITPA

Green List (high evidence)
ITPA (inosine triphosphatase)
EnsemblGeneIds (GRCh38): ENSG00000125877
EnsemblGeneIds (GRCh37): ENSG00000125877
OMIM: 147520, Gene2Phenotype
ITPA is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

DEE: at least 15 individuals reported. Mouse model is perinatal lethal.
Created: 15 Mar 2022, 1:43 a.m. | Last Modified: 15 Mar 2022, 1:43 a.m.
Panel Version: 0.11370

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 35, MIM# 616647

Publications

Created: 15 Mar 2022, 1:43 a.m.
Last Modified: 15 Mar 2022, 1:43 a.m.
Panel version: Imported from Mendeliome panel version 0.11370

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Inosine triphosphatase deficiency is considered an inborn error of purine metabolism.
Sources: NHS GMS
Created: 5 Feb 2021, 2:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Inosine triphosphatase deficiency MIM#613850; Developmental and epileptic encephalopathy 35 MIM#616647; Disorders of purine metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Feb 2021, 2:35 a.m.

Panel version: Imported from Mendeliome panel version Imported from Miscellaneous Metabolic Disorders panel version 0.192

Details

Mode of Inheritance
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
OMIM
147520
Clinvar variants
Variants in ITPA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 May 2024, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ITPA was added gene: ITPA was added to Nucleotide metabolism disorders. Sources: Expert Review Green Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPA were set to 12384777; 27604308 Phenotypes for gene: ITPA were set to Disorders of purine metabolism; Inosine triphosphatase deficiency MIM#613850; Developmental and epileptic encephalopathy 35 MIM#616647