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Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
MT-TL1
MELAS
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Diabetes, mitochondrial (hot spot mutation - m.3243A>G, MTTL1 (tRNA-Leu) )
MT-TL1
MELAS
Centrum Medische Genetica - UZ Antwerpen
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (full sequencing)
MT-TL1
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) (hot spot mutation - m.3243A>G)
MT-TL1
MELAS
Centrum Medische Genetica - UZ Brussel VUB
Aniridia
PAX6
Aniridia-cerebellar ataxia-intellectual disability syndrome
,
Isolated aniridia
Centrum Medische Genetica - UZ Gent
Nijmegen Breakage Syndrome
NBN
Nijmegen breakage syndrome
Centrum Menselijke Erfelijkheid - KUL
Nijmegen breakage syndrome
NBN
Nijmegen breakage syndrome
Centrum Medische Genetica - UZ Gent
Hereditary cancer (Breast, ovary, colon) (26 genes)
BRCA1
,
BRCA2
,
BARD1
,
BRIP1
,
CDH1
,
MLH1
,
MSH2
,
MSH6
,
MEN1
,
PTEN
,
RAD50
,
RAD51D
,
STK11
,
TP53
,
CHEK2
,
MUTYH
,
PALB2
,
RAD51C
,
ATM
,
EPCAM
,
BLM
,
NBN
,
PMS2
,
XRCC2
,
ABRAXAS1
,
MRE11
Cancer (Breast, ovary, colon,…) (26 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Blepharophimosis type I /II
FOXL2
Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
,
Blepharophimosis-epicanthus inversus-ptosis due to copy number variations
Centrum Medische Genetica - UZ Gent
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