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Additional findings_Paediatric

Gene: XPC

Green List (high evidence)

XPC (XPC complex subunit, DNA damage recognition and repair factor)
EnsemblGeneIds (GRCh38): ENSG00000154767
EnsemblGeneIds (GRCh37): ENSG00000154767
OMIM: 613208, Gene2Phenotype
XPC is in 11 panels

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Details

History Filter Activity

27 Aug 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: XPC was added gene: XPC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: XPC were set to Xeroderma pigmentosum