Bone Marrow Failure
Gene: DUTEnsemblGeneIds (GRCh38): ENSG00000128951
EnsemblGeneIds (GRCh37): ENSG00000128951
OMIM: 601266, Gene2Phenotype
DUT is in 2 panels
2 reviews
Daniel Flanagan (Victorian Clinical Genetics Services)
Homozygous missense (p.(Tyr142Cys)) identified in eight affected individuals from four unrelated consanguineous families (French, Egyptian, two Libyan) with diabetes and bone marrow failure. DUT silencing in human and rat pancreatic b-cells results in apoptosis via the intrinsic cell death pathway.
p.(Tyr142Cys) has 11 heterozygotes and no homozygotes in gnomAD.
Sources: Expert listCreated: 6 Oct 2022, 3:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bone marrow failure and diabetes mellitus syndrome (MIM#620044)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Bone marrow failure and diabetes mellitus syndrome (MIM#620044)
- OMIM
- 601266
- Clinvar variants
- Variants in DUT
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: dut has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: dut has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Daniel Flanagan (Victorian Clinical Genetics Services)gene: DUT was added gene: DUT was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: DUT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DUT were set to 28073829; 35611808 Phenotypes for gene: DUT were set to Bone marrow failure and diabetes mellitus syndrome (MIM#620044) Review for gene: DUT was set to AMBER