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Keratinopathic ichthyosis (epidermolytic ichtyosis, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma) (3 genes)
keratinopathic ichthyosis (3 genes) - KUL
Autosomal dominant epidermolytic ichthyosis
,
Superficial epidermolytic ichthyosis
,
Congenital reticular ichthyosiform erythroderma
Centrum Menselijke Erfelijkheid - KUL
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome
TYMP
,
POLG
,
POLG2
,
RRM2B
MNGIE syndrome (4 genes) - VUB
Mitochondrial neurogastrointestinal encephalomyopathy
Centrum Medische Genetica - UZ Brussel VUB
Myeloid neoplasms with germline predisposition (Hereditary MDS/Acute Leukemia) (gene panel)
Hereditary Myelodysplastic /Acute Leukemia Predisposition Syndromes (gene panel)
B-cell chronic lymphocytic leukemia
,
Inherited acute myeloid leukemia
,
Chronic myeloid leukemia
,
Atypical chronic myeloid leukemia
,
Precursor B-cell acute lymphoblastic leukemia
,
Familial platelet disorder with associated myeloid malignancy
,
DDX41-related hematologic malignancy predisposition syndrome
,
Idiopathic aplastic anemia
Centre de Génétique Humaine - CHU Sart-Tilman
X-linked creatine deficiency
SLC6A8
X-linked creatine transporter deficiency
Centre de Génétique Humaine - CHU Sart-Tilman
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