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Achromatopsia
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Hereditary Spastic Paraplegia Superpanel
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IBMDx study
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NCGC
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Prepair 1000+
Prepair 500+
Primary Ovarian Insufficiency_Premature Ovarian Failure
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Retinitis Pigmentosa Superpanel
Rhabdomyolysis and Metabolic Myopathy
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Severe Combined Immunodeficiency (absent T present B cells)
Severe early-onset obesity
Short Long Bones with Advanced Carpal Bone Age
Short QT syndrome
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
Sick sinus syndrome
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Speech apraxia
Spondylocostal Dysostosis
Stickler Syndrome
Stroke
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Syndromic Retinopathy
Systemic Autoinflammatory Disease_Periodic Fever
TCGA_PANCAN_2018
Transplant Co-Morbidity Superpanel
Tremors_Superpanel
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
Tubulinopathies
Usher Syndrome
Vascular Malformations_Germline
Vascular Malformations_Somatic
Vascular Malformations SuperPanel
Vasculitis
Ventricular Fibrillation
Vitamin metabolism disorders
Vitreoretinopathy
Wilms Tumour Predisposition
Version
Panel Version
0.2
Gene or Genomic Entity Name
VHL
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07 Jan 2020
NCGC v0.0
VHL
Lavinia Gordon gene: VHL was added
gene: VHL was added to NCGC. Sources: NCGC
Mode of inheritance for gene: VHL was set to Other
Phenotypes for gene: VHL were set to Von Hippel-Lindau syndrome