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Leber hereditary optic neuropathy (LHON) – (DNAJC30 gene)
DNAJC30
Leber hereditary optic neuropathy
Centrum Medische Genetica - UZ Brussel VUB
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)
MT-ND1
,
MT-ND4
,
MT-ND6
Leber hereditary optic neuropathy
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)
MT-ND1
,
MT-ND4
,
MT-ND6
LHON (3 genes) - VUB
Leber hereditary optic neuropathy
Centrum Medische Genetica - UZ Brussel VUB
Fanconi anemia (gene panel)
Fanconi anemia - UGent
Fanconi anemia
Centrum Medische Genetica - UZ Gent
Fanconi anemia (FANCC) (hot spot mutation - c.456+4A>T)
FANCC
Fanconi anemia
Centrum Medische Genetica - UZ Antwerpen
Cardiomyopathy: hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular non-compaction cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy (gene panel)
Cardiomyopathy (genepanel) - UZA
Familial isolated dilated cardiomyopathy
,
Familial isolated restrictive cardiomyopathy
,
Left ventricular noncompaction
,
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Centrum Medische Genetica - UZ Antwerpen
Cardiomyopathy, hereditary (gene panel)
Cardiomyopathy, hereditary (208 genes) - VUB
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
,
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
,
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
,
Familial isolated dilated cardiomyopathy
,
Familial isolated restrictive cardiomyopathy
,
Left ventricular noncompaction
Centrum Medische Genetica - UZ Brussel VUB
Primary familial erythrocytosis or Primary familial congenital polycythemia
EPOR
Primary familial polycythemia
Centre de Génétique Humaine - CHU Sart-Tilman
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