This Panel is marked as Retired
Epileptic encephalopathy
Gene: ITPA
ITPA (inosine triphosphatase)
EnsemblGeneIds (GRCh38): ENSG00000125877
EnsemblGeneIds (GRCh37): ENSG00000125877
OMIM: 147520, Gene2Phenotype
ITPA is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000125877
EnsemblGeneIds (GRCh37): ENSG00000125877
OMIM: 147520, Gene2Phenotype
ITPA is in 6 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment on "pharmacogenetic" tag: Abnormal 6-mercaptopurine metabolism in ITPase-deficient patients may cause thiopurine drug toxicityCreated: 20 Mar 2017, 11:13 a.m.
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.Created: 20 Mar 2017, 11:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epileptic encephalopathy, early infantile, 35, 616647
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Epileptic encephalopathy, early infantile, 35, 616647
- Tags
- OMIM
- 147520
- Clinvar variants
- Variants in ITPA
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
20 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
20 Mar 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)ITPA was added to Epileptic encephalopathypanel. Sources: Expert Review
20 Mar 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)ITPA was created by sleigh