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Laboratory
Metabolic diseases with hepatic disorders (20 genes)
ATP7B
,
CPT1A
,
CYP27A1
,
DGUOK
,
DHCR7
,
EHHADH
,
GBE1
,
GNAS
,
GUSB
,
LIPA
,
MPV17
,
NEU1
,
NPC1
,
NPC2
,
POLG
,
SI
,
SLC25A13
,
SMPD1
,
TALDO1
,
TRMU
Metabolic diseases with hepatic disorders (20 genes) - UCL
Wilson disease
,
CPT deficiency, hepatic, type IA
,
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
,
Smith-Lemli-Opitz syndrome
,
Primary Fanconi renotubular syndrome
,
Glycogen storage disease IV
,
McCune-Albright syndrome
,
Mucopolysaccharidosis type 7
,
Wolman disease
,
Cholesteryl ester storage disease
,
Sialidosis type 1
,
Juvenile sialidosis type 2
,
Congenital sialidosis type 2
,
Niemann-Pick disease type C, severe perinatal form
,
Niemann-Pick disease type C, late infantile neurologic onset
,
Niemann-Pick disease type C, severe early infantile neurologic onset
,
Niemann-Pick disease type C, adult neurologic onset
,
Niemann-Pick disease type C, juvenile neurologic onset
,
Chronic visceral acid sphingomyelinase deficiency
,
Infantile neurovisceral acid sphingomyelinase deficiency
,
Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
,
Citrullinemia type II
,
Transaldolase deficiency
,
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
,
Cerebrotendinous xanthomatosis
Centre de Génétique Médicale UCL
Wilson Disease
ATP7B
Wilson disease
Centre de Génétique Médicale UCL
Temple syndrome / Kagami-Ogata Syndrome
DLK1
,
MEG3
,
RTL1
Temple syndrome due to maternal uniparental disomy of chromosome 14
,
Temple syndrome due to paternal 14q32.2 hypomethylation
,
Temple syndrome due to paternal 14q32.2 microdeletion
,
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
,
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
,
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
Centre de Génétique Médicale UCL
Central Precocious Puberty (5 genes)
MKRN3
,
KISS1
,
KISS1R
,
PROKR2
,
DLK1
Central Precocious Puberty (5 genes) - ULG
Idiopathic central precocious puberty
Centre de Génétique Humaine - CHU Sart-Tilman
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM gene)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centrum Medische Genetica - UZ Brussel VUB
Medium chain acyl-CoA dehydrogenase deficiency (MCAD hot spot mutation - p.Lys329Glu)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
Congenital hemangioma (2 genes)
GNAQ
,
GNA11
Familial multiple nevi flammei
,
Sturge-Weber syndrome
,
Uveal melanoma
Centrum Menselijke Erfelijkheid - KUL
Hypocalciuric hypercalcemia, familial type II
GNA11
Familial hypocalciuric hypercalcemia type 2
Centre de Génétique Humaine - CHU Sart-Tilman
Vascular malformations (somatic)
AKT1
,
AKT2
,
AKT3
,
ALK
,
BRAF
,
GNA11
,
GNA14
,
GNAQ
,
HRAS
,
IDH1
,
IDH2
,
KRAS
,
NRAS
,
PIK3CA
,
PIK3R1
,
PIK3R2
,
PTEN
,
TEK
,
MAP3K3
,
MAP2K1
Vascular malformations (somatic) (19 genes) - UCL
Capillary malformation-arteriovenous malformation
,
CLOVES syndrome
,
Maffucci syndrome
,
Proteus syndrome
Centre de Génétique Médicale UCL
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