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Blepharophimosis v0.6 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Blepharophimosis v0.6 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Red List (Low Evidence).
Blepharophimosis v0.6 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Blepharophimosis. Sources: Expert list
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 11443545
Phenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, MIM# 610756
Review for gene: ERCC2 was set to RED
Added comment: ERCC2 is associated with trichothiodystrophy and xeroderma pigmentosum. Only one family reported with COFS phenotype in 2001.
Sources: Expert list