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Disease
Laboratory
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
Craniosynostosis syndromes (Apert, Crouzon)
FGFR2
Crouzon syndrome
,
Apert syndrome
Centrum Medische Genetica - UZ Antwerpen
Craniosynostosis / Apert syndrome (hot spot mutations - exon 7)
FGFR2
Apert syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Venous malformation (3 genes)
TEK
,
GLMN
Venous malformation (3 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Blue rubber bleb nevus
,
Mucocutaneous venous malformations
,
Glomuvenous malformation
,
Bannayan-Riley-Ruvalcaba syndrome
,
Cowden syndrome
,
Juvenile polyposis of infancy
,
Proteus syndrome
,
Proteus-like syndrome
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Centre de Génétique Médicale UCL
Keratinopathic ichthyosis (epidermolytic ichtyosis, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma) (3 genes)
keratinopathic ichthyosis (3 genes) - KUL
Autosomal dominant epidermolytic ichthyosis
,
Superficial epidermolytic ichthyosis
,
Congenital reticular ichthyosiform erythroderma
Centrum Menselijke Erfelijkheid - KUL
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