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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 |
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