Cytopenias and congenital anaemias
Gene: TPI1Comment on list classification: upgraded from Amber to Green due to evidence in the literatureCreated: 23 Feb 2017, 12:31 p.m.
Comment on publications: More than fifteen mutations have been identified in TPI1 locus (PMID:10910933, PMID:17879449) that give rise to TPI-deficiency, the Glu104Asp substitution is the most frequent one, which accounts for approximately 80% of clinical TPI deficiency (PMID:7485100). However, many other mutations have been identified, mostly in compound heterozygotes coupled with the Glu104Asp mutation. For example PMID:20374271 in 2 unrelated children with TPI deficiency, two compound heterozygous mutations in the TPI gene, c.722 T>C (Phe240Ser) and c.28 insG were identified in addition to the common variant Glu104Asp e.g.: PMID:10910933 (2 unrelated families ).Created: 23 Feb 2017, 12:31 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Enzyme Disorder; Hemolytic anemia due to triosephosphate isomerase deficiency
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
TPI1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Literature
This gene has been classified as Green List (High Evidence).
Publications for TPI1 were set to 10910933;17879449;10910933;20374271;7485100
TPI1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Mode of inheritance for TPI1 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency,615512;Enzyme Disorder
Phenotypes for TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency;Enzyme Disorder
TPI1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
TPI1 was created by LouiseD