Anophthalmia or microphthalmia

Gene: XPC

Red List (low evidence)

XPC (XPC complex subunit, DNA damage recognition and repair factor)
EnsemblGeneIds (GRCh38): ENSG00000154767
EnsemblGeneIds (GRCh37): ENSG00000154767
OMIM: 613208, Gene2Phenotype
XPC is in 12 panels

1 review

David FitzPatrick (University of Edinburgh)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

History Filter Activity

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

XPC was added to Anophthalmia/microphthalmiapanel. Sources: UKGTN