Miscellaneous Metabolic Disorders

Gene: ITPA

Green List (high evidence)

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

1 review

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

Details

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

History Filter Activity

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: itpa has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: itpa has been classified as Green List (High Evidence).

5 Feb 2021, Gel status: 1

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 Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITPA were set to 27604308; 12384777 Phenotypes for gene: ITPA were set to Inosine triphosphatase deficiency MIM#613850; Developmental and epileptic encephalopathy 35 MIM#616647; Disorders of purine metabolism Review for gene: ITPA was set to GREEN gene: ITPA was marked as current diagnostic