Cytopenia - NOT Fanconi anaemia

Gene: DUT

Amber List (moderate evidence)

DUT (deoxyuridine triphosphatase)
EnsemblGeneIds (GRCh38): ENSG00000128951
EnsemblGeneIds (GRCh37): ENSG00000128951
OMIM: 601266, Gene2Phenotype
DUT is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: New gene added by Hannah Knight. Homozygous variants identified in at least 10 individuals from 6 unrelated families (French, Egyptian, two Libyan, Sudanese and Scottish) with bone marrow failure and diabetes. DUT silencing in human and rat pancreatic β-cells results in apoptosis via the intrinsic cell death pathway.

Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 3 Jan 2024, 12:30 p.m. | Last Modified: 3 Jan 2024, 12:30 p.m.
Panel Version: 4.132

Hannah Knight (NIHR BioResource - University of Cambridge)

I don't know

PMID: 28073829 (2017) - two unrelated consanguineous families with diabetes and bone marrow aplasia, both homozygous for p.Y142C
PMID: 35611808 (2022) - another family, two affected children with thrombocytopenia, macrocytosis, with or without anemia, followed by non-autoimmune diabetes. Same homozygous missense variant identified as before
PMID: 35931051 (2022) - identified probands who came from two independent families, had bi-allelic DUT variants, and presented with severe pancytopenia and mucocutaneous skin features. Information in supplementary materials. One patient homozygous for p.Tyr142Cys and the other compound het for p.Arg173Trp and p.Tyr227Cys
Sources: Literature
Created: 4 Dec 2023, 4:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Bone marrow failure and diabetes mellitus syndrome


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Literature
  • Expert Review Amber
  • Bone marrow failure and diabetes mellitus syndrome, OMIM:620044
Clinvar variants
Variants in DUT
Panels with this gene

History Filter Activity

3 Jan 2024, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q4_23_NHS_review was removed from gene: DUT.

3 Jan 2024, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: DUT was added gene: DUT was added to Cytopenia - NOT Fanconi anaemia. Sources: Expert Review Amber,Literature Q4_23_promote_green, Q4_23_NHS_review tags were added to gene: DUT. Mode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DUT were set to 28073829; 35611808; 35931051 Phenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome, OMIM:620044