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  3. UBE2T
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Bone Marrow Failure

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Additional family reported, upgrade to Green.
Created: 28 Jul 2020, 10:42 p.m. | Last Modified: 28 Jul 2020, 10:42 p.m.
Panel Version: 0.74
Two unrelated families reported, one of the variants was a large deletion.
Sources: Expert list
Created: 6 Apr 2020, 1:58 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fanconi anemia, complementation group T, MIM# 616435

Publications

Created: 6 Apr 2020, 1:58 a.m.

Panel version: 0.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Fanconi anemia, complementation group T, MIM# 616435
Tags
SV/CNV
OMIM
610538
Clinvar variants
Variants in UBE2T
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jul 2020, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: UBE2T.

28 Jul 2020, 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).

6 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ube2t has been classified as Amber List (Moderate Evidence).

6 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ube2t has been classified as Amber List (Moderate Evidence).

6 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UBE2T was added gene: UBE2T was added to Bone Marrow Failure. Sources: Expert list 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, MIM# 616435 Review for gene: UBE2T was set to AMBER