Monogenic diabetes
Gene: DUTComment 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
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: LiteratureCreated: 4 Dec 2023, 4:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bone marrow failure and diabetes mellitus syndrome
Tag Q4_23_NHS_review was removed from gene: DUT.
gene: DUT was added gene: DUT was added to Monogenic diabetes. 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