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Glycogen storage disease type 0
GYS2
Glycogen storage disease due to hepatic glycogen synthase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Hemochromatosis hereditary type 2 to type 5 (5 genes)
HAMP
,
FTH1
,
SLC40A1
,
TFR2
,
HJV
Hemochromatosis hereditary (types 2 to 5) (5 genes) - UCL
HJV or HAMP-related hemochromatosis
,
TFR2-related hemochromatosis
,
Hemochromatosis type 4
,
Hemochromatosis type 5
Centre de Génétique Médicale UCL
Hemochromatosis, juvenile (HJV and HAMP genes)
HAMP
HJV or HAMP-related hemochromatosis
Centre de Génétique Humaine - CHU Sart-Tilman
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome
CXCR4
WHIM syndrome
Centrum Menselijke Erfelijkheid - KUL
Vascular malformations (somatic)
AKT1
,
AKT2
,
AKT3
,
ALK
,
BRAF
,
GNA11
,
GNA14
,
GNAQ
,
HRAS
,
IDH1
,
IDH2
,
KRAS
,
NRAS
,
PIK3CA
,
PIK3R1
,
PIK3R2
,
PTEN
,
TEK
,
MAP3K3
,
MAP2K1
Vascular malformations (somatic) (19 genes) - UCL
Capillary malformation-arteriovenous malformation
,
CLOVES syndrome
,
Maffucci syndrome
,
Proteus syndrome
Centre de Génétique Médicale UCL
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