Hemophagocytic Lymphohistiocytosis, Familial, 5; Fhl5

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Hemophagocytic Lymphohistiocytosis, Familial, 5; Fhl5

STXBP2

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Hemophagocytic Lymphohistiocytosis, Familial, 5; Fhl5

Hepatosplenomegaly
Hypertriglyceridemia
Episodic fever
Increased serum ferritin
Hemophagocytosis
Abnormal natural killer cell physiology

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Hemophagocytic Lymphohistiocytosis, Familial, 5; Fhl5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
STXBP2 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). STXBP2 Specificity 100 % Genes 100 %
Hemophagocytic Lymphohistiocytosis Panel by next generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SH2D1A, SLC7A7, STX11, STXBP2, CD27, LYST, UNC13D, MAGT1, GATA2, AP3B1, XIAP, ITK, BLOC1S6, PRF1, RAB27A Specificity 7 % Genes 100 %
Hemophagocytic Lymphohistiocytosis Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). SH2D1A, SLC7A7, STX11, STXBP2, CD27, LYST, UNC13D, MAGT1, AP3B1, XIAP, ITK, BLOC1S6, PRF1, RAB27A Specificity 8 % Genes 100 %
STXBP2 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). STXBP2 Specificity 100 % Genes 100 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel. By Genetic Services Laboratory University of Chicago (United States). BLM, SH2D1A, BRCA1, BRCA2, STXBP2, FAS, CD27, FASLG, WAS, IKZF1, CASP10, CARD11, TNFRSF13B, ADA, DOCK8, CTLA4, MAGT1, ITK, NBN, NF1 , (...) View the complete list with 3 more genes Panel complete gene list BLM, SH2D1A, BRCA1, BRCA2, STXBP2, FAS, CD27, FASLG, WAS, IKZF1, CASP10, CARD11, TNFRSF13B, ADA, DOCK8, CTLA4, MAGT1, ITK, NBN, NF1, ATM, PIK3CD, PRF1 Specificity 5 % Genes 100 %
STXBP2. By Institute for Human Genetics University Clinic Freiburg (Germany). STXBP2 Specificity 100 % Genes 100 %
STXBP2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). STXBP2 Specificity 100 % Genes 100 %
Familial Hemophagocytic Lymphohistiocytosis 5 (sequence analysis of STXBP2 gene). By CGC Genetics (Portugal). STXBP2 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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