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  3. UBE2T
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Neurofibromatosis Type 1

Gene: UBE2T

Red List (low evidence)
UBE2T (ubiquitin conjugating enzyme E2 T)
EnsemblGeneIds (GRCh38): ENSG00000077152
EnsemblGeneIds (GRCh37): ENSG00000077152
OMIM: 610538, Gene2Phenotype
UBE2T is in 12 panels

1 review

Alice Gardham (Genomics England)

I don't know

Probable cause of Fanconi anaemia on D2P
Only reported in two unrelated cases
Created: 2 Nov 2016, 11:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anaemia, complementation group T, 616435

Publications

Created: 2 Nov 2016, 11:16 a.m.

Panel version: 0.15

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Fanconi anaemia, complementation group T, 616435
OMIM
610538
Clinvar variants
Variants in UBE2T
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Nov 2016, Gel status: 1

panel promoted to version 1

Alice Gardham (Genomics England)

Panel finalised 14th November 2016

3 Nov 2016, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

2 Nov 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

UBE2T was added to Neurofibromatosis Type 1panel. Sources: Literature,Illumina TruGenome Clinical Sequencing Services

2 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

UBE2T was created by agardham