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Hyperekplexia (gene panel-6 genes)
Hyperekplexia (6 genes) - IPG
Hereditary hyperekplexia
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hyperekplexia (3 genes)
SLC6A5
,
GLRA1
,
GLRB
Hyperekplexia (3 genes) - ULG
Hereditary hyperekplexia
Centre de Génétique Humaine - CHU Sart-Tilman
Familial Thoracic Aortic Aneurysm (gene panel)
Familial Thoracic Aortic Aneurysm (21 genes) - UGent
Familial thoracic aortic aneurysm and aortic dissection
,
Loeys-Dietz syndrome
Centrum Medische Genetica - UZ Gent
Aneurysm, Thoracic Aortic, familial (gene panel)
Familial Thoracic Aortic Aneurysm (genepanel) - UZA
Familial thoracic aortic aneurysm and aortic dissection
Centrum Medische Genetica - UZ Antwerpen
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel)
Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG
Hemolytic uremic syndrome with DGKE deficiency
,
Atypical hemolytic uremic syndrome with anti-factor H antibodies
,
Atypical hemolytic uremic syndrome with complement gene abnormality
,
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
,
Atypical hemolytic-uremic syndrome with B factor anomaly
,
Atypical hemolytic-uremic syndrome with H factor anomaly
,
Atypical hemolytic-uremic syndrome with C3 anomaly
,
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
,
Atypical hemolytic-uremic syndrome with I factor anomaly
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centre de Génétique Médicale UCL
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centrum Medische Genetica - UZ Gent
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centrum Medische Genetica - UZ Antwerpen
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
,
Prader-Willi syndrome due to imprinting mutation
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centrum Menselijke Erfelijkheid - KUL
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Prader-Willi syndrome due to imprinting mutation
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Centre de Génétique Humaine - Erasme ULB
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centre de Génétique Humaine - CHU Sart-Tilman
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