Radial dysplasia

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Eligibility statement prior genetic testing
Phenotypes
  • Fanconi Anemia, Complementation Group T, 616435
OMIM
610538
Clinvar variants
Variants in UBE2T
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

22 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for UBE2T were set to Fanconi Anemia, Complementation Group T, 616435

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for UBE2T were set to Fanconi Anemia, Complementation Group T

11 May 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for UBE2T were set to 26046368; 26085575; 26119737

11 May 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for UBE2T was changed to BIALLELIC, autosomal or pseudoautosomal

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

UBE2T was added to Radial dysplasiapanel. Source: Other

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

UBE2T was added to Radial dysplasiapanel. Sources: Eligibility statement prior genetic testing

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

UBE2T was created by rfoulger