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Prepair 1000+

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

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

Rare cause of Fanconi anaemia, only 4 cases reported to date. 1x mild (hypomorphic) with adult presentation, the remaining are early-onset.
Created: 9 Jan 2025, 5:02 a.m. | Last Modified: 9 Jan 2025, 5:02 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group T (MIM#616435)

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Fanconi anaemia, complementation group T, MIM#616435
OMIM
610538
Clinvar variants
Variants in UBE2T
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Jan 2025, 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).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UBE2T were changed from Fanconi anemia, complementation group T, 616435 (3) to Fanconi anaemia, complementation group T, MIM#616435

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UBE2T were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Fanconi anemia, complementation group T, 616435 (3) for gene: UBE2T

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, 616435 (3)