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Pancreatitis, hereditary (7 genes)
CASR
,
CFTR
,
CLDN2
,
CPA1
,
CTRC
,
PRSS1
,
SPINK1
Pancreatitis (7 genes) - UCL
Hereditary chronic pancreatitis
Centre de Génétique Médicale UCL
Pancreatitis, hereditary (7 genes)
CASR
,
CFTR
,
CLDN2
,
CPA1
,
CTRC
,
PRSS1
,
SPINK1
Pancreatitis (7 genes) - ULB
Hereditary chronic pancreatitis
Centre de Génétique Humaine - Erasme ULB
Pancreatitis, idiopathic or hereditary (7 genes)
CFTR
,
SPINK1
,
PRSS1
,
CTRC
,
CASR
,
CLDN2
,
CPA1
Pancreatitis (7 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Generalized Arterial Calcification of Infancy
ENPP1
,
ABCC6
Generalized arterial calcification of infancy
Centrum Medische Genetica - UZ Gent
Adrenogenital syndrome
CYP21A2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
,
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Centrum Medische Genetica - UZ Antwerpen
Canavan disease (hot spot mutation - p.Glu285Ala, p.Tyr231*)
ASPA
Mild Canavan disease
,
Severe Canavan disease
Centrum Medische Genetica - UZ Antwerpen
Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations)
ASPA
,
ELP1
,
HEXA
,
FANCC
Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA
Centrum Medische Genetica - UZ Antwerpen
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