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Myopathy Superpanel
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Prepair 1000+
Prepair 500+
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Retinitis pigmentosa_Autosomal Dominant
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Retinitis Pigmentosa Superpanel
Rhabdomyolysis and Metabolic Myopathy
Sarcoma non-soft tissue
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Schwannoma
Severe Combined Immunodeficiency (absent T absent B cells)
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
Skeletal dysplasia
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Speech apraxia
Spondylocostal Dysostosis
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Stickler Syndrome
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Syndromic Retinopathy
Thyroid Cancer
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
Version
Panel Version
0.205
Gene or Genomic Entity Name
CHKB
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17 Nov 2019
Autism v0.0
CHKB
Zornitza Stark gene: CHKB was added
gene: CHKB was added to Autism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CHKB was set to Unknown