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Laboratory
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene)
SCN4A
Hyperkalemic periodic paralysis
,
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
Bloom syndrome
BLM
Bloom syndrome
Centrum Medische Genetica - UZ Gent
Bloom syndrome
BLM
Bloom syndrome
Centrum Menselijke Erfelijkheid - KUL
Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity
COL4A1
,
COL4A2
Familial porencephaly
,
HANAC syndrome
,
Retinal arterial tortuosity
Centrum Medische Genetica - UZ Gent
Congenital hemangioma (2 genes)
GNAQ
,
GNA11
Familial multiple nevi flammei
,
Sturge-Weber syndrome
,
Uveal melanoma
Centrum Menselijke Erfelijkheid - KUL
Melanoma (6 genes)
BAP1
,
CDK4
,
CDKN2A
,
MC1R
,
MITF
,
POT1
Melanoma (6 genes) - UCL
Familial melanoma
,
MITF-related melanoma and renal cell carcinoma predisposition syndrome
,
Uveal melanoma
,
Melanoma of soft tissue
Centre de Génétique Médicale UCL
Lymphoproliferative syndrome, X-linked (SH2D1A gene) / Duncan's disease
SH2D1A
X-linked lymphoproliferative disease
,
X-linked lymphoproliferative disease due to SH2D1A deficiency
Centrum Menselijke Erfelijkheid - KUL
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