Limb disordersGene: UBE2T
Comment when marking as ready: Three unrelated cases noted from reviews and some functional work. Therefore considered appropriate for inclusion. Note that the reported mutational spectrum includes multi-exonic deletions however. FA is associated with radial dysplasia in some, therefore included.
Created: 11 May 2017, 2:15 p.m.
Comment 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 phenotype
Created: 22 Feb 2017, 12:26 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Note that UBE2T is listed in the phenotypic series for Fanconi anemia in OMIM, but is not in the UKTGN gene panel for Fanconi anemia.
Created: 18 Oct 2016, 1:23 p.m.
Rebecca Foulger: Note that UBE2T is listed in t
Source Expert Review Green was added to UBE2T. Added phenotypes Fanconi Anemia, Complementation Group T, 616435 for gene: UBE2T
gene: UBE2T was added gene: UBE2T was added to Limb disorders. Sources: Other Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE2T were set to 26046368; 26119737; 26085575 Phenotypes for gene: UBE2T were set to Fanconi Anemia, Complementation Group T, 616435