GenTIGSA Gene Database on Rare Genetic Disorders

Lists of Rare Genetic Disorders  

Familial Hemophagocytic Lymphohistiocytosis 3(FHL3) 
An Autosomal recessive mode(s) within the Immune disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 UNC13D/201294 unc-13 homolog D 17q25.1 Chr17, NC_000017.11
(75827225..75844404, complement)
17180 nt 32 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information    
Disorder Cross-References:      Orphanet          OMIM                    GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

Patient care services
Clinical Symptoms & Disabilities