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Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations)
CACNA1S
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene)
SCN4A
Hyperkalemic periodic paralysis
,
Hypokalemic periodic paralysis
Centrum Medische Genetica - UZ Brussel VUB
Venous malformation (3 genes)
TEK
,
GLMN
Venous malformation (3 genes) - UCL
,
Vascular malformations (germline) (38 genes) - UCL
Blue rubber bleb nevus
,
Mucocutaneous venous malformations
,
Glomuvenous malformation
,
Bannayan-Riley-Ruvalcaba syndrome
,
Cowden syndrome
,
Juvenile polyposis of infancy
,
Proteus syndrome
,
Proteus-like syndrome
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Centre de Génétique Médicale UCL
Cowden disease / PTEN hamartoma tumor syndrome
PTEN
Cowden syndrome
,
Bannayan-Riley-Ruvalcaba syndrome
,
Proteus syndrome
Centrum Medische Genetica - UZ Gent
Cowden disease (PTEN gene)
PTEN
Cowden syndrome
Centre de Génétique Humaine - CHU Sart-Tilman
Enzymatic dosage MPS1/Hurler syndrome
Hurler-Scheie syndrome
,
Hurler syndrome
Centrum Medische Genetica - UZ Brussel VUB
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel)
Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG
Hemolytic uremic syndrome with DGKE deficiency
,
Atypical hemolytic uremic syndrome with anti-factor H antibodies
,
Atypical hemolytic uremic syndrome with complement gene abnormality
,
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
,
Atypical hemolytic-uremic syndrome with B factor anomaly
,
Atypical hemolytic-uremic syndrome with H factor anomaly
,
Atypical hemolytic-uremic syndrome with C3 anomaly
,
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
,
Atypical hemolytic-uremic syndrome with I factor anomaly
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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