Haematological malignancies cancer susceptibility
Gene: UNC13DComment on mode of inheritance: Biallelic variants caused Hemophagocytic lymphohistiocytosis, familial, 3, whereas heterozygous variants in this gene have been associated with increased risk of lymphoma in PMID: 30758854, and with childhood leukemia in PMID 21370424.Created: 3 Apr 2019, 3:58 p.m.
Comment on list classification: Promoted to Amber for review.Created: 3 Apr 2019, 3:44 p.m.
Gene on a gene list submitted by Clare Turnbull.
Sources: Expert list, LiteratureCreated: 3 Apr 2019, 3:34 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Increased risk of lymphoma; predisposition to childhood anaplastic large cell lymphoma; predisposition to leukemia; increased susceptibility to malignancy
Publications
Mode of inheritance for gene: UNC13D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: unc13d has been classified as Amber List (Moderate Evidence).
Publications for gene UNC13D were changed from 30758854; 24309606; 21370424 to 30758854; 24309606; 21370424; 24827398
gene: UNC13D was added gene: UNC13D was added to Haematological malignancies cancer susceptibility. Sources: Expert list,Literature Mode of inheritance for gene: UNC13D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UNC13D were set to 30758854; 24309606; 21370424 Phenotypes for gene: UNC13D were set to Increased risk of lymphoma; predisposition to childhood anaplastic large cell lymphoma; predisposition to leukemia; increased susceptibility to malignancy