Cytopenias and congenital anaemias
Gene: UBE2TComment on list classification: Upgraded status from Red to Green due to literature search.Created: 22 Feb 2017, 5:30 p.m.
Comment on publications: Evidence for 3 unrelated cases.
PMID: 26046368 Reports 2 unrelated Japanese patients with Fanconi anemia, complementation group T. A heterozygous missense mutation leading to p.Q2E was uncovered in both patients. Additionally, both patients harbored unique mutations in their second alleles, a 23-kilobase genomic deletion in one patient and skipped exon resulting in a frameshift and premature stop codon in the other. Complementation of patient cells with wild-type UBE2T restored efficient FANCD2 monoubiquitination and nuclear foci formation, and rescued the increased sensitivity to MMC-induced chromosome breakage.
PMID 26085575, 26119737
Describe the same individual with biallelic mutations in UBE2 and undertook Sanger sequencing of genomic DNA which identified two germline mutations, a paternal deletion and a maternal duplication of exons 2–6, both caused by aluY-mediated recombination events. Just as with the patients reported by Hira et al., retroviral complementation with wild-type UBE2T rescued the ICL-induced cell cycle arrest and chromosome breakage phenotypes (26046368, 26085575, 26119737)Created: 22 Feb 2017, 5:29 p.m.
Comment on phenotypes: Added OMIM phenotypeCreated: 22 Feb 2017, 12:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia
Publications
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).
This gene has been classified as Green List (High Evidence).
Publications for UBE2T were set to 26046368
Phenotypes for UBE2T were set to Falcon anemia;Fanconi anemia, complementation group T, 616435
UBE2T was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen
UBE2T was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
UBE2T was created by LouiseD