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COVID-19 research

Gene: UNC13D

Green List (high evidence)

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

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): UNC13D .PanelApp HGNC gene symbol check: UNC13D . IUIS Disease: UNC13D / Munc13-4 deficiency (FHL3) . IUIS Inheritance: AR , .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Fever, HSM, HLH, cytopenias, . IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed status from Amber to Green, there are more than 3 unrelated cases to support the phenotype Familial hemophagocytic lymphohistiocytosis-3 (FHL3) caused by homozygous or compound heterozygous mutation in the gene encoding perforin UNC13D
Created: 30 Apr 2018, 11:36 a.m.
from GeneReview PMID:20301617: Approx 20%-30% 3, 5 worldwide of FHL are FHL3 (Hemophagocytic lymphohistiocytosis, familial, 3) PMID:15632205, PMID:15703195.
Created: 30 Apr 2018, 11:33 a.m.
Comment on publications: added publication PMID: 17993578 to support age-specific-variation tag eg: this gene is not specific to early onset
Created: 30 Apr 2018, 11:30 a.m.
Added age-specific-variation tag
Created: 30 Apr 2018, 11:28 a.m.
from OMIM: Feldmann et al. (2003) PMID: 14622600 Identified 6 different mutations in the UNC13D gene in 10 patients from 7 unrelated families with Hemophagocytic lymphohistiocytosis-3 (FHL3). In a Turkish patient from a consanguineous family with primary hemophagocytic lymphohistiocytosis, Zur Stadt et al. (2006) PMID:16278825 identified homozygosity for a missense mutation in the UNC13D gene.
Rudd et al. (2008) PMID: 17993578 reported 9 patients from 6 families with genetically confirmed FHL3. There was considerable variation in age at diagnosis, ranging from birth to 14 years, and 3 of the 9 mutation-positive patients developed central nervous system symptoms. Natural killer cell activity was impaired in all 4 patients studied. Defective cytotoxic lymphocyte degranulation was evident in the 2 patients investigated, and was more pronounced in the patient with onset during infancy than in the patient with adolescent onset.
Created: 30 Apr 2018, 11:26 a.m.
Comment on publications: Added publications to support role of UNC13D variants in Hemophagocytic lymphohistiocytosis, familial, 3
Created: 30 Apr 2018, 11:22 a.m.
Comment on phenotypes: added OMIM MIMid and synonyms
Created: 30 Apr 2018, 11:17 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 19 Apr 2018, 10:55 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: UNC13D, PanelApp HGNC gene symbol check: UNC13D, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Diseases of immune dysregulation / Hemophagocytic Lymphohistiocytosis (HLH) / Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: UNC13D, GRID_Gene_Symbol: UNC13D, GRID_Transcript_ENS_Community submitted: ENST00000207549, GRID_Transcript_RefSeq: NM_199242.2, GRID_Transcript_ENS_used_on_Production: ENST00000207549
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial 3, 608898
  • Diseases of Immune Dysregulation
  • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
  • HPLH3
  • HLH3
  • FHL3
  • Fever, HSM, HLH, cytopenias,
OMIM
608897
Clinvar variants
Variants in UNC13D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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 Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC13D were set to 15632205; 14622600; 16278825; 15703195; 17993578 Phenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial 3, 608898; Diseases of Immune Dysregulation; Familial hemophagocytic lymphohistiocytosis syndromes (FHLH); HPLH3; HLH3; FHL3; Fever, HSM, HLH, cytopenias,