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Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 | DUT |
Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: DUT. Tag Q4_23_NHS_review was removed from gene: DUT. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 | DUT | Sarah Leigh reviewed gene: DUT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 | DUT |
Achchuthan Shanmugasundram Source NHS GMS was added to DUT. Source Expert Review Green was added to DUT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Primary immunodeficiency or monogenic inflammatory bowel disease v4.133 | DUT | Arina Puzriakova Publications for gene: DUT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.132 | DUT |
Arina Puzriakova Tag Q4_23_promote_green tag was added to gene: DUT. Tag Q4_23_NHS_review tag was added to gene: DUT. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v4.132 | DUT | Arina Puzriakova Classified gene: DUT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.132 | DUT |
Arina Puzriakova Added comment: 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. |
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Primary immunodeficiency or monogenic inflammatory bowel disease v4.132 | DUT | Arina Puzriakova Gene: dut has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.131 | DUT | Arina Puzriakova Phenotypes for gene: DUT were changed from Bone marrow failure and diabetes mellitus syndrome to Bone marrow failure and diabetes mellitus syndrome, OMIM:620044 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v4.125 | DUT |
Hannah Knight 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 Added comment: 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 |