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Achromatopsia
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Prepair 1000+
Prepair 500+
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Retinitis Pigmentosa Superpanel
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Severe Combined Immunodeficiency (absent T present B cells)
Severe early-onset obesity
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Short QT syndrome
Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy
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Stickler Syndrome
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TCGA_PANCAN_2018
Transplant Co-Morbidity Superpanel
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Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly
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Usher Syndrome
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Vascular Malformations SuperPanel
Vasculitis
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Wilms Tumour Predisposition
Version
Panel Version
0.2
Gene or Genomic Entity Name
ERCC2
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07 Jan 2020
NCGC v0.0
ERCC2
Lavinia Gordon gene: ERCC2 was added
gene: ERCC2 was added to NCGC. Sources: NCGC
Mode of inheritance for gene: ERCC2 was set to Other
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, group D