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Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1)
MT-RNR1
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1)
MT-RNR1
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Centrum Medische Genetica - UZ Antwerpen
Hereditary Melanoma Panel (7 genes)
CDKN2A
,
CDK4
,
POT1
,
TERT
,
TERF2IP
,
BAP1
,
MITF
Hereditary Melanoma Panel (7 genes) - ULG
Familial melanoma
Centre de Génétique Humaine - CHU Sart-Tilman
Cardiofaciocutaneous syndrome (5 genes)
HRAS
,
KRAS
,
BRAF
,
MAP2K2
,
MAP2K1
Cardiofaciocutaneous syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Costello Syndrome- Schimmelpenning syndrome
HRAS
Costello 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
Hereditary angioneurotic edema (2 genes)
F12
,
SERPING1
C1 inhibitor deficiency
,
Hereditary angioedema type 1
,
Hereditary angioedema type 2
Centre de Génétique Médicale UCL
Hereditary Angioedema (7 genes)
PLG
,
F12
,
SERPING1
,
ANGPT1
,
KNG1
Angioedema (7 genes) - IPG
F12-related hereditary angioedema with normal C1Inh
,
Hereditary angioedema type 1
,
Hereditary angioedema type 2
,
PLG-related hereditary angioedema with normal C1Inh
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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