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Charcot-Marie-Tooth (CMT1A, GJB1)
GJB1
,
PMP22
X-linked Charcot-Marie-Tooth disease type 1
,
Charcot-Marie-Tooth disease type 1A
Centre de Génétique Humaine - Erasme ULB
Kabuki syndrome (gene panel)
KMT2D
,
KDM6A
,
KMT2A
,
HNRNPK
,
RAP1A
,
RAP1B
,
PACS1
Kabuki (7 genes) - IPG
Kabuki syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leiomyomatosis and renal cell cancer
FH
Hereditary leiomyomatosis and renal cell cancer
Centre de Génétique Médicale UCL
Renal carcinoma (4 genes)
MET
,
FH
,
FLCN
,
VHL
Renal carcinoma (4 genes) - UCL
Clear cell renal carcinoma
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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