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Incontinentia pigmenti (IKBKG gene)
IKBKG
Incontinentia pigmenti
Centrum Medische Genetica - UZ Brussel VUB
Hallervorden-Spatz disease (Neurodegeneration with brain iron accumulation type 1) / HARP syndrome (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis pigmentosa, and Pallidal degeneration)
PANK2
Classic pantothenate kinase-associated neurodegeneration
,
Atypical pantothenate kinase-associated neurodegeneration
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Retinoblastoma
RB1
Hereditary retinoblastoma
,
Non-hereditary retinoblastoma
Centrum Menselijke Erfelijkheid - KUL
Retinoblastoma
RB1
Hereditary retinoblastoma
,
Non-hereditary retinoblastoma
Centre de Génétique Médicale UCL
Cholestasis, progressive familial intrahepatic (gene panel)
ABCB11
,
ABCB4
,
ATP8B1
,
NR1H4
,
TJP2
Cholestasis, progressive familial intrahepatic (5 genes) - UCL
Progressive familial intrahepatic cholestasis type 1
,
Progressive familial intrahepatic cholestasis type 2
,
Progressive familial intrahepatic cholestasis type 3
,
Progressive familial intrahepatic cholestasis type 4
,
Progressive familial intrahepatic cholestasis type 5
,
Benign recurrent intrahepatic cholestasis type 1
,
Benign recurrent intrahepatic cholestasis type 2
Centre de Génétique Médicale UCL
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