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Congenital myotonia (Becker-Thomsen disease) (CLCN1 gene)
CLCN1
Thomsen and Becker disease
Centrum Medische Genetica - UZ Brussel VUB
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
Small cell carcinoma of the ovary
SMARCA4
Small cell carcinoma of the ovary
Centrum Medische Genetica - UZ Gent
Rare non-epithelial ovarian neoplasms (2 genes)
DICER1
,
SMARCA4
Small cell carcinoma of the ovary
,
Malignant Sertoli-Leydig cell tumor of the ovary
,
Maligant granulosa cell tumor of the ovary
Centrum Menselijke Erfelijkheid - KUL
Rhabdoid Tumor Predisposition Syndrome (SMARCA4; SMARCB1 genes)
SMARCB1
,
SMARCA4
Rhabdoid tumor predisposition syndrome
Centrum Menselijke Erfelijkheid - KUL
Oligodontia-colorectal cancer syndrome
AXIN2
Oligodontia-cancer predisposition syndrome
Centre de Génétique Médicale UCL
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