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Usher syndrome (gene panel)
CDH23
,
CLRN1
,
WHRN
,
ADGRV1
,
MYO7A
,
PCDH15
,
PDZD7
,
USH1C
,
USH1G
,
USH2A
Usher syndrome (10 genes) - UZA
Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (SCA) types 8, 10, 12, 17 - repeat expansion
ATXN8
,
ATXN10
,
PPP2R2B
,
TBP
Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA
Spinocerebellar ataxia type 8
,
Spinocerebellar ataxia type 10
,
Spinocerebellar ataxia type 12
,
Spinocerebellar ataxia type 17
Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion
ATXN8
,
TBP
,
ATN1
Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB
Spinocerebellar ataxia type 8
,
Spinocerebellar ataxia type 17
,
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Brussel VUB
Leber hereditary optic neuropathy (LHON) – (DNAJC30 gene)
DNAJC30
Leber hereditary optic neuropathy
Centrum Medische Genetica - UZ Brussel VUB
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