| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Growth failure v0.266 | ERCC2 | Zornitza Stark Marked gene: ERCC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.266 | ERCC2 | Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.266 | ERCC2 | Zornitza Stark Classified gene: ERCC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.266 | ERCC2 | Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v0.265 | ERCC2 |
Zornitza Stark gene: ERCC2 was added gene: ERCC2 was added to Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC2 were set to 7849702; 9758621; 11443545; 33733458 Phenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; Trichothiodystrophy 1, photosensitive, MIM# 601675 Review for gene: ERCC2 was set to GREEN Added comment: Bi-allelic inactivation of XPD protein, a nucleotide excision repair (NER) signaling pathway component encoded by ERCC2 gene, has been associated with several defective DNA repair phenotypes, of which photosensitive trichothiodystrophy and cerebro-oculo-facio-skeletal syndrome have short stature as a feature. Sources: Expert Review |
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