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Occipital horn syndrome / Distal Spinal Muscular atrophy
ATP7A
Occipital horn syndrome
,
X-linked distal spinal muscular atrophy type 3
Centrum Medische Genetica - UZ Gent
Hyperparathyroidism (gene panel)
AIP
,
MEN1
,
CDKN1B
,
PRKAR1A
,
RET
Familial isolated hyperparathyroidism
Centre de Génétique Humaine - CHU Sart-Tilman
Multiple endocrine neoplasia, type 1 and 4
MEN1
,
CDKN1B
,
AIP
Multiple endocrine neoplasia type 1
,
Multiple endocrine neoplasia type 4
Centrum Medische Genetica - UZ Gent
Pituitary adenoma (4 genes)
MEN1
,
AIP
,
CDKN1B
,
PRKAR1A
Pituitary adenoma (4 genes) - ULG
Familial isolated pituitary adenoma
,
Silent pituitary adenoma
,
Null pituitary adenoma
,
Multiple endocrine neoplasia type 1
,
Multiple endocrine neoplasia type 4
,
Carney complex
Centre de Génétique Humaine - CHU Sart-Tilman
Pituitary adenoma (5 genes)
AIP
,
CDKN1B
,
MEN1
,
RET
,
PRKAR1A
Pituitary adenoma (5 genes) - UCL
Familial isolated pituitary adenoma
,
Silent pituitary adenoma
,
Null pituitary adenoma
,
Prolactinoma
,
Pituitary gigantism
,
Acromegaly
Centre de Génétique Médicale UCL
Glycogen storage disease type 9
PHKA2
Glycogen storage disease due to liver phosphorylase kinase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Congenital hemangioma (2 genes)
GNAQ
,
GNA11
Familial multiple nevi flammei
,
Sturge-Weber syndrome
,
Uveal melanoma
Centrum Menselijke Erfelijkheid - KUL
Hypocalciuric hypercalcemia, familial type II
GNA11
Familial hypocalciuric hypercalcemia type 2
Centre de Génétique Humaine - CHU Sart-Tilman
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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