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Disorders of immune dysregulation

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple individuals reported. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. First episodes occur mostly during infancy, with a rapidly fatal outcome if untreated.
Created: 21 Mar 2022, 7:39 a.m. | Last Modified: 21 Mar 2022, 7:39 a.m.
Panel Version: 0.109

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898

Publications

Created: 21 Mar 2022, 7:39 a.m.
Last Modified: 21 Mar 2022, 7:39 a.m.
Panel version: 0.109

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple individuals reported. Familial hemophagocytic lymphohistiocytosis is a genetically heterogeneous condition characterized by defective cytotoxicity. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. First episodes occur mostly during infancy, with a rapidly fatal outcome if untreated.
Created: 21 Mar 2022, 4:18 a.m. | Last Modified: 21 Mar 2022, 4:18 a.m.
Panel Version: 0.11665

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hemophagocytic lymphohistiocytosis, familial, 3 MIM#608898

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 Mar 2022, 4:18 a.m.
Last Modified: 21 Mar 2022, 4:18 a.m.
Panel version: Imported from Mendeliome panel version 0.11665

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898
Tags
treatable
OMIM
608897
Clinvar variants
Variants in UNC13D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: UNC13D.

21 Mar 2022, 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).

21 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

21 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: UNC13D were set to

21 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: UNC13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: UNC13D was added gene: UNC13D was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: UNC13D was set to Unknown