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Immunodeficiency 30 / Susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Centrum Menselijke Erfelijkheid - KUL
Torsion dystonia 1 (DYT1) (hotspot mutation - c.907_909 delGAG)
TOR1A
Early-onset generalized limb-onset dystonia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Susceptibility to pancreatitis induced by thiopurine immunosuppressants
Azathioprine or 6-mercatopurine toxicity or dose selection
Centre de Génétique Humaine - CHU Sart-Tilman
Endocrine Disorders - Hypothyroidism (gene panel - 42 genes)
Endocrine Disorders - Hypothyroidism (42 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Endocrine Disorders - Hyper(Hypo)parathyroidism (gene panel - 24 genes)
Endocrine Disorders - Hyper(Hypo)parathyroidism (24 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Neuropathy (gene panel)
Neuropathy panel - UGent
Centrum Medische Genetica - UZ Gent
BAP1-related tumor predisposition syndrome (TPDS)
BAP1
Familial melanoma
Centrum Menselijke Erfelijkheid - KUL
Metastatic Breast or Pancreatic or Prostate Cancer
BRCA1
,
BRCA2
Centrum Menselijke Erfelijkheid - KUL
filaggrin gene
FLG
NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris
,
DERMATITIS, ATOPIC
Centre de Génétique Humaine - CHU Sart-Tilman
test
test1
,
test 2
Sciensano
« Inherited bone marrow failures syndromes » with or without organ dysfunction
Hematologic Familiar Forms - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome
FOXP3
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Centrum Menselijke Erfelijkheid - KUL
Telomeropathies (virtual gene panel)
Centre de Génétique Médicale UCL
Hereditary cancer panel (gene panel)
Hereditary Cancer Solution (35 genes) - UCL
Centre de Génétique Médicale UCL
Hereditary Polyposis Panel (11 genes) - ULG
APC
,
MUTYH
,
BMPR1A
,
NTHL1
,
SMAD4
,
MSH3
,
POLE
,
POLD1
,
PTEN
,
STK11
,
GREM1
Hereditary Polyposis Panel (11 genes) - ULG
Familial adenomatous polyposis
,
MUTYH-related attenuated familial adenomatous polyposis
,
Turcot syndrome with polyposis
,
Hereditary mixed polyposis syndrome
,
Generalized juvenile polyposis/juvenile polyposis coli
Centre de Génétique Humaine - CHU Sart-Tilman
Hereditary Melanoma Panel (7 genes)
CDKN2A
,
CDK4
,
POT1
,
TERT
,
TERF2IP
,
BAP1
,
MITF
Hereditary Melanoma Panel (7 genes) - ULG
Familial melanoma
Centre de Génétique Humaine - CHU Sart-Tilman
Germline analysis of BRCA1/2 for iPARP treatment
BRCA1
,
BRCA2
Germline analysis of BRCA1/2 for iPARP treatment
Hereditary breast cancer
Centre de Génétique Humaine - CHU Sart-Tilman
Hepatology (gene panel)
Hepatology panel - UGent
Centrum Medische Genetica - UZ Gent
Respiratory disorders (gene panel): non-CF bronchiectasis; pulmonary hypertension; interstitial lung disease
Respiratory Disorders panel (137 genes) - Ugent
Centrum Medische Genetica - UZ Gent
Kennedy disease (Spinal and bulbar muscular atrophy, SBMA) - CAG repeat expansion
AR
Kennedy disease
Centrum Menselijke Erfelijkheid - KUL
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