Radial dysplasia
Gene: UBE2TComment 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 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
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.
23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Phenotypes for UBE2T were set to Fanconi Anemia, Complementation Group T, 616435
This gene has been classified as Green List (High Evidence).
Phenotypes for UBE2T were set to Fanconi Anemia, Complementation Group T
Publications for UBE2T were set to 26046368; 26085575; 26119737
Mode of inheritance for UBE2T was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
UBE2T was added to Radial dysplasiapanel. Source: Other
UBE2T was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing
UBE2T was created by rfoulger