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  3. UNC13D
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Haematological malignancies cancer susceptibility

Gene: UNC13D

Amber List (moderate evidence)
UNC13D (unc-13 homolog D)
EnsemblGeneIds (GRCh38): ENSG00000092929
EnsemblGeneIds (GRCh37): ENSG00000092929
OMIM: 608897, Gene2Phenotype
UNC13D is in 7 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment 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, Literature
Created: 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

Created: 3 Apr 2019, 3:34 p.m.

Panel version: 1.4

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • Increased risk of lymphoma
  • predisposition to childhood anaplastic large cell lymphoma
  • predisposition to leukemia
  • increased susceptibility to malignancy
OMIM
608897
Clinvar variants
Variants in UNC13D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 2

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: UNC13D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

3 Apr 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: unc13d has been classified as Amber List (Moderate Evidence).

3 Apr 2019, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene UNC13D were changed from 30758854; 24309606; 21370424 to 30758854; 24309606; 21370424; 24827398

3 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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