Pigmentary skin disorders
Gene: UBE2TEnsemblGeneIds (GRCh38): ENSG00000077152
EnsemblGeneIds (GRCh37): ENSG00000077152
OMIM: 610538, Gene2Phenotype
UBE2T is in 12 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP T; FANCT
Publications
Catherine Snow (Genomics England)
Following discussion with the Genomics England clinical team it was agreed that genes associated with Fanconi anaemia should be included on this panel. Therefore added to panel as a Green gene.Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.22
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- FANCT
- FANCONI ANEMIA, COMPLEMENTATION GROUP T
- OMIM
- 610538
- Clinvar variants
- Variants in UBE2T
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- Limb disorders
- Confirmed Fanconi anaemia or Bloom syndrome
- 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
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes FANCT; FANCONI ANEMIA, COMPLEMENTATION GROUP T for gene: UBE2T Publications for gene UBE2T were changed from to 26046368
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Green was added to UBE2T. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: UBE2T was added gene: UBE2T was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal