Cockayne syndromeGene: ERCC5
More than 3 cases reported with association with Xeroderma pigmentosum, group G/Cockayne syndrome in OMIM, from several different reports and multiple different variants. It is a confirmed DD gene for Xeroderma pigmentosum, group G.
16 Aug 2016, 10:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Xeroderma pigmentosum, group G Cockayne syndrome, 278780
ERCC5 was added to Cockayne syndromepanel. Sources: Radboud University Medical Center, Nijmegen
ERCC5 was created by ellenmcdonagh