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Myoclonic epilepsy of Unverricht and Lundborg / Progressive myoclonus epilepsy /Baltic myoclonic epilepsy
CSTB
Progressive myoclonic epilepsy type 1
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel)
Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG
Alport syndrome
,
Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
,
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
,
Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Autosomal dominant non-syndromic sensorineural deafness type DFNA9 (COCH partial sequencing)
COCH
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Deafness, autosomal dominant 6/14 / Wolfram syndrome
WFS1
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
,
Wolfram syndrome
Centrum Medische Genetica - UZ Antwerpen
Hearing loss (deafness), autosomal dominant 9 (COCH exons 4 and 5)
COCH
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Centrum Medische Genetica - UZ Antwerpen
Hereditary angioedema type III (F12 gene - hot spot mutations - p.Thr328Lys; p. Thr328Arg)
F12
F12-related hereditary angioedema with normal C1Inh
Centre de Génétique Humaine - CHU Sart-Tilman
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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