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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
  1. HGMD Human Gene Mutation Database