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Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat)
FRG1
Facioscapulohumeral dystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Facioscapulohumeral Muscular Dystrophy 2 (hypomethylation D4Z4 repeats)
FRG1
Facioscapulohumeral dystrophy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Facioscapulohumeral muscular dystrophy 1A (D4Z4 repeat)
FRG1
Facioscapulohumeral dystrophy
Centrum Menselijke Erfelijkheid - KUL
Bronchiectasis (4 genes)
CFTR
,
SCNN1A
,
SCNN1B
,
SCNN1G
Bronchiectasis (4 genes) - UCL
Idiopathic bronchiectasis
Centre de Génétique Médicale UCL
Bronchiectasies with or without elevated sweat chloride panel (5 genes)
CFTR
,
SCNN1A
,
SCNN1B
,
SCNN1G
Pulmonary/Bronchiectasies (5 genes) - IPG
Idiopathic bronchiectasis
,
Cystic fibrosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Agnathia-otocephaly complex
PRRX1
Agnathia-holoprosencephaly-situs inversus syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Agammaglobulinemia
PIK3R1
Autosomal agammaglobulinemia
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
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