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Laboratory
Cardiofaciocutaneous syndrome (5 genes)
HRAS
,
KRAS
,
BRAF
,
MAP2K2
,
MAP2K1
Cardiofaciocutaneous syndrome
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
Hypermethylation promoter MLH1 and p.V600 of BRAF1
MLH1
,
BRAF
Lynch syndrome
Centrum Menselijke Erfelijkheid - KUL
Lynch syndrome - MLH1 promoter hypermethylation and BRAF V600E mutation
MLH1
,
BRAF
Selection of therapeutic option in colorectal cancer
Centre de Génétique Humaine - CHU Sart-Tilman
Recessive nonsyndromic hearing loss and deafness DFNB (2 genes)
GJB2
,
GJB6
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Clouston syndrome
GJB6
Hidrotic ectodermal dysplasia
Centrum Medische Genetica - UZ Antwerpen
Ectodermal dysplasia
GJB6
Hidrotic ectodermal dysplasia
Centrum Medische Genetica - UZ Antwerpen
Frequent hearing deficiency (4 genes)
GJB2
,
GJB6
,
STRC
,
OTOA
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centre de Génétique Humaine - Erasme ULB
Recessive nonsyndromic hearing loss and deafness (2 genes)
GJB2
,
GJB6
Non syndromic hearing loss and deafness (2 genes) - IPG - ULG
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centre de Génétique Humaine - CHU Sart-Tilman
Generalized Arterial Calcification of Infancy
ENPP1
,
ABCC6
Generalized arterial calcification of infancy
Centrum Medische Genetica - UZ Gent
Torsion dystonia 1 (DYT1) (hotspot mutation - c.907_909 delGAG)
TOR1A
Early-onset generalized limb-onset dystonia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Torsion dystonia 1 (DYT1) (hot spot mutation - c.907_909delGAG)
TOR1A
Early-onset generalized limb-onset dystonia
Centrum Menselijke Erfelijkheid - KUL
Torsion dystonia 1 (hot spot mutation - c.907_909delGAG)
TOR1A
Early-onset generalized limb-onset dystonia
Centre de Génétique Humaine - Erasme ULB
Alport autosomal recessive and X-linked and hematuria (3 genes)
COL4A3
,
COL4A4
,
COL4A5
Alport (X-linked and recessive) (3 genes) - IPG
Autosomal recessive Alport syndrome
,
X-linked Alport syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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