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Limb disorders

Gene: UBE2T

Green List (high evidence)

UBE2T (ubiquitin conjugating enzyme E2 T)
EnsemblGeneIds (GRCh38): ENSG00000077152
EnsemblGeneIds (GRCh37): ENSG00000077152
OMIM: 610538, Gene2Phenotype
UBE2T is in 10 panels

4 reviews

Helen Brittain (Genomics England Curator)

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.

Louise Daugherty (Genomics England Curator)

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.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Rebecca Foulger (Genomics England curator)

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.

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: Note that UBE2T is listed in t

16 Oct 2018, Gel status: 4

Added New Source, Set Phenotypes

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to UBE2T. Added phenotypes Fanconi Anemia, Complementation Group T, 616435 for gene: UBE2T

16 Oct 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

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