Table 1 Genes included in the panel
From: Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
Gene | Ensembl gene ID, transcript ID | Locus | Associated disease | Number of amplicons | Coverage (%) | HGMD coverage (%) |
|---|---|---|---|---|---|---|
PRF1 | ENSG00000180644, ENST00000373209 | 10q22.1 | Familial hemophagocytic lymphohistiocytosis type 2 | 11 | 100 | 100 |
UNC13D | ENSG00000092929, ENST00000207549 | 17q25.1 | Familial hemophagocytic lymphohistiocytosis type 3 | 51 | 98.3 | 99.2 |
STX11 | ENSG00000135604, ENST00000367568 | 6q24.2 | Familial hemophagocytic lymphohistiocytosis type 4 | 28 | 100 | 100 |
STXBP2 | ENSG00000076944, ENST00000441779 | 19p13.2 | Familial hemophagocytic lymphohistiocytosis type 5 | 25 | 98.5 | 100 |
SH2D1A | ENSG00000183918, ENST00000371139 | Xq25 | X-linked lymphoproliferative disease type 1 | 5 | 100 | 98.8 |
XIAP | ENSG00000101966, ENST00000371199 | Xq25 | X-linked lymphoproliferative disease type 2 | 13 | 92.2 | 92.9 |
RAB27A | ENSG00000069974, ENST00000396307 | 15q21.3 | Griscelli syndrome type 2 | 10 | 100 | 100 |
LYST | ENSG00000143669, ENST00000389794 | 1q42.3 | Chediak-Higashi syndrome | 120 | 97.7 | 98.4 |
AP3B1 | ENSG00000132842, ENST00000255194 | 5q14.1 | Hermansky-Pudlak syndrome type 2 | 50 | 94 | 100 |
BLOC1S6 | ENSG00000104164, ENST00000220531 | 15q21.1 | Hermansky-Pudlak syndrome type 9 | 8 | 99.1 | 100 |
MAGT1 | ENSG00000102158, ENST00000358075 | Xq21.1 | X-linked immunodeficiency with magnesium defect, EBV infection, and neoplasia | 18 | 100 | 100 |
ITK | ENSG00000113263, ENST00000422843 | 5q33.3 | Inducible T-cell kinase deficiency | 22 | 96.7 | 100 |