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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
Sarcoma
Schwannomatosis
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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
Skeletal dysplasia
Skeletal Dysplasia_Fetal
Skeletal Muscle Channelopathies
Speech apraxia
Spondylocostal Dysostosis
Stickler Syndrome
Stroke
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Syndromic Retinopathy
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TCGA_PANCAN_2018
Transplant Co-Morbidity Superpanel
Tremors_Superpanel
Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
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Usher Syndrome
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Vascular Malformations SuperPanel
Vasculitis
Ventricular Fibrillation
Vitamin metabolism disorders
Vitreoretinopathy
Wilms Tumour Predisposition
Version
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0.285
Gene or Genomic Entity Name
COL5A1
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17 Dec 2019
Skeletal dysplasia v0.0
COL5A1
Zornitza Stark gene: COL5A1 was added
gene: COL5A1 was added to Skeletal dysplasia. Sources: Expert
Mode of inheritance for gene: COL5A1 was set to