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Gene: UNC13D

Green List (high evidence)
UNC13D (unc-13 homolog D)
EnsemblGeneIds (GRCh38): ENSG00000092929
EnsemblGeneIds (GRCh37): ENSG00000092929
OMIM: 608897, Gene2Phenotype
UNC13D is in 10 panels

1 review

Lisa Norbart (Victorian Clinical Genetics Services)

Green List (high evidence)

FHL3 is a heterogeneous disease characterized by fever, hepatosplenomegaly, and hemophagocytosis with frequent occurrence of a range of additional features, including splenomegaly, central nervous system involvement (e.g., headache, encephalopathy, cranial nerve palsies, seizures, and ataxia), viral infections, malignancy (e.g., leukemia), neutropenia, thrombocytopenia, and deficient natural killer cell activity.

Strong gene disease association.

Typically onset in infancy.
Individuals with late-onset HLH and/or atypical features have been reported, which may be associated with hypomorphic variants in UNC13D.
Created: 6 Feb 2025, 3:43 a.m. | Last Modified: 6 Feb 2025, 3:43 a.m.
Panel Version: 1.1459

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 3, MIM#608898

Publications

Created: 6 Feb 2025, 3:43 a.m.
Last Modified: 6 Feb 2025, 3:43 a.m.
Panel version: 1.1459

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898
OMIM
608897
Clinvar variants
Variants in UNC13D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: unc13d has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: UNC13D were changed from Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) to Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UNC13D were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3) for gene: UNC13D

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UNC13D was added gene: UNC13D was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)