Genes in panel
STRs in panel
Prev Next

Genetic epilepsy syndromes

Gene: ITPA

Green List (high evidence)

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

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR EIEE 35 - onset of seizures in the first few months of life associated with essentially no normal development. Keevalem et al, 2015 - 7 patients from 4 families with severe EIEE, 2 families consang and patients presented shortly after birth with seizures 6/7 died between 10 months and 2.5 years. 4 diff hom mutations identified . The erythrocytes of 1 proband showed severely reduced ITPase activity and accumulation of ITP whereas the other 3 probands showed severely reduced ITPase activity and no accum of ITP. ITPase deficiency is also asociated with variant is n this gene - most commonly P32T.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on "pharmacogenetic" tag: Abnormal 6-mercaptopurine metabolism in ITPase-deficient patients may cause thiopurine drug toxicity
Created: 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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Expert Review
  • Expert Review Green
Phenotypes
  • Epileptic encephalopathy, early infantile, 35, 616647
OMIM
147520
Clinvar variants
Variants in ITPA
Penetrance
None
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ITPA.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ITPA.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Inclusion of this as a green g

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ITPA. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

ITPA was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

ITPA was created by Sarah Leigh