1. Panels
  2. IBMDx study
  3. UBE2T
STRs in panel
Prev Next
Regions in panel
Prev Next

IBMDx study

Gene: UBE2T

Green List (high evidence)
UBE2T (ubiquitin conjugating enzyme E2 T)
EnsemblGeneIds (GRCh38): ENSG00000077152
EnsemblGeneIds (GRCh37): ENSG00000077152
OMIM: 610538, Gene2Phenotype
UBE2T is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional family reported, upgrade to Green.
Created: 28 Jul 2020, 10:42 p.m. | Last Modified: 28 Jul 2020, 10:42 p.m.
Panel Version: 0.74
Two unrelated families reported, one of the variants was a large deletion.
Sources: Expert list
Created: 6 Apr 2020, 1:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group T, MIM# 616435

Publications

Created: 6 Apr 2020, 1:58 a.m.

Panel version: Imported from Bone Marrow Failure panel version 0.74

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • IBMDx Study
  • Expert Review Green
  • Expert list
Phenotypes
  • Fanconi anemia, complementation group T, MIM# 616435
OMIM
610538
Clinvar variants
Variants in UBE2T
Penetrance
None
Panels with this gene

History Filter Activity

10 Dec 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UBE2T was added gene: UBE2T was added to IBMDx study. Sources: IBMDx Study,Expert Review Green Mode of inheritance for gene: UBE2T was set to Unknown Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM# 616435