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Disease
Laboratory
Overgrowth & vascular anomalies / Proteus syndrome (c.49G>A (p.Glu17Lys) mutation)
AKT1
Proteus 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
FSHR - Ovarian Hyperstimulation Syndrome
FSHR
Ovarian hyperstimulation syndrome
,
Primary ovarian failure (NON RARE IN EUROPE)
Centre de Génétique Humaine - Erasme ULB
Beckwith-Wiedemann syndrome (11p15 methylation)
H19
,
KCNQ1OT1
,
IGF2
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
,
Beckwith-Wiedemann syndrome
Centrum Menselijke Erfelijkheid - KUL
Acrocapitofemoral dysplasia / Brachydactyly, type A1
IHH
Acrocapitofemoral dysplasia
,
Brachydactyly type A1
Centrum Medische Genetica - UZ Gent
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