1. Panels
  2. Growth failure
  3. UBE2T
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Growth failure

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)

Poor growth is an early feature of FA.
Created: 10 Aug 2021, 10:24 p.m. | Last Modified: 10 Aug 2021, 10:24 p.m.
Panel Version: 0.83
Additional family reported, upgrade to Green.
Created: 28 Jul 2020, 10:43 p.m. | Last Modified: 28 Jul 2020, 10:43 p.m.
Panel Version: 0.19
Two unrelated families reported, one of the variants was a large deletion.
Created: 6 Apr 2020, 2 a.m. | Last Modified: 6 Apr 2020, 2 a.m.
Panel Version: 0.8

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group T, MIM# 616435

Publications

Created: 6 Apr 2020, 2 a.m.
Last Modified: 6 Apr 2020, 2 a.m.
Panel version: 0.83

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Fanconi anemia, complementation group T, MIM# 616435
OMIM
610538
Clinvar variants
Variants in UBE2T
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ube2t has been classified as Green List (High Evidence).

10 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UBE2T were changed from Falcon anemia; 616435 Fanconi anemia, complementation group T; Fanconi anemia, complementation group T, 616435 to Fanconi anemia, complementation group T, MIM# 616435

10 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBE2T were set to 26046368

19 Jul 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UBE2T was added gene: UBE2T was added to Growth failure in early childhood. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE2T were set to 26046368 Phenotypes for gene: UBE2T were set to Falcon anemia; 616435 Fanconi anemia, complementation group T; Fanconi anemia, complementation group T, 616435