Primary immunodeficiency or monogenic inflammatory bowel disease
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
Publications for gene: DUT were set to
Tag Q4_23_promote_green tag was added to gene: DUT. Tag Q4_23_NHS_review tag was added to gene: DUT.
Gene: dut has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: DUT were changed from Bone marrow failure and diabetes mellitus syndrome to Bone marrow failure and diabetes mellitus syndrome, OMIM:620044
gene: DUT was added gene: DUT was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome Review for gene: DUT was set to AMBER