Cytopenias and congenital anaemias
Gene: TPI1EnsemblGeneIds (GRCh38): ENSG00000111669
EnsemblGeneIds (GRCh37): ENSG00000111669
OMIM: 190450, Gene2Phenotype
TPI1 is in 2 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment 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.
BRIDGE consortium (NIHRBR-RD)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hemolytic anemia due to triosephosphate isomerase deficiency,615512
- Enzyme Disorder
- OMIM
- 190450
- Clinvar variants
- Variants in TPI1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Louise Daugherty (Genomics England Curator)TPI1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Literature
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for TPI1 were set to 10910933;17879449;10910933;20374271;7485100
Upload gene information
Louise Daugherty (Genomics England Curator)TPI1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for TPI1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency,615512;Enzyme Disorder
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency;Enzyme Disorder
Added New Source
Louise Daugherty (Genomics England Curator)TPI1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Louise Daugherty (Genomics England Curator)TPI1 was created by LouiseD