Common Genetic Mutations

Clinical DiagnosisGene Mutation
CyclicELANE

Clinical DiagnosisGene Mutation
CongenitalELANE
CSF3R
CXCR2
CXCR4 (Myelokathexis)
G6PC3
SLC37A4 (GSD Ib)
G6PC (GSD Ib)
CLPB
HAX1 (Kostmann)
Mitochondrial DNA deletion (Pearson syndrome)
SBDS (Shwachman-Diamond syndrome)
TAZ (Barth syndrome)
TCIRG1
VPS13B (Cohen syndrome)
VPS45
WAS (Wiskott-Aldrich syndrome)
WIPF1 (Wiskott-Aldrich 2)