Monogenic short stature
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
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore added to panel as a Green gene.Created: 30 May 2019, 9:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
616435 Fanconi anemia, complementation group T; Falcon anemia; Fanconi anemia, complementation group T, 616435
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Fanconi anemia, complementation group T, OMIM:616435
- 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
- Fetal anomalies
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Radial dysplasia
- Haematological malignancies for rare disease
History Filter Activity
26 Mar 2024, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: UBE2T was added gene: UBE2T was added to Monogenic short stature. Sources: 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 Fanconi anemia, complementation group T, OMIM:616435