This Panel is marked as Internal
Anaemias and red cell disorders
Gene: UBE2T
UBE2T (ubiquitin conjugating enzyme E2 T)
EnsemblGeneIds (GRCh38): ENSG00000077152
EnsemblGeneIds (GRCh37): ENSG00000077152
OMIM: 610538, Gene2Phenotype
UBE2T is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000077152
EnsemblGeneIds (GRCh37): ENSG00000077152
OMIM: 610538, Gene2Phenotype
UBE2T is in 12 panels
1 review
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fanconi anemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Fanconi anemia
- OMIM
- 610538
- Clinvar variants
- Variants in UBE2T
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Confirmed Fanconi anaemia or Bloom syndrome
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Fetal anomalies
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Radial dysplasia
- Haematological malignancies for rare disease
History Filter Activity
16 Jan 2017, Gel status: 0
Approved Gene
Louise Daugherty (Genomics England Curator)This proposed gene was validated and added to this panel
16 Jan 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)UBE2T was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)
16 Jan 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)UBE2T was created by BRIDGE