| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cholestasis v0.244 | PLEC | Zornitza Stark Marked gene: PLEC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.244 | PLEC | Zornitza Stark Gene: plec has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.244 | PLEC | Zornitza Stark Classified gene: PLEC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.244 | PLEC | Zornitza Stark Gene: plec has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.243 | PLEC |
Zornitza Stark gene: PLEC was added gene: PLEC was added to Cholestasis. Sources: Literature Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLEC were set to 39168815 Phenotypes for gene: PLEC were set to Progressive familial intrahepatic cholestasis, MONDO:0015762, PLEC-related Review for gene: PLEC was set to AMBER Added comment: Four individuals reported with PFIC and bi-allelic variants in PLEC (one pair of sibs, and two other unrelated infants). However, limited functional data and several of the variants are missense. Sources: Literature |
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