Early onset or syndromic epilepsy
Gene: ITPA
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
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
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
Source Wessex and West Midlands GLH was added to ITPA.
Source NHS GMS was added to ITPA.
Sarah Leigh: Inclusion of this as a green g
Victorian Clinical Genetics Services was added to ITPA. Panel: Genetic Epilepsy Syndromes
ITPA was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review
ITPA was created by Sarah Leigh