| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.545 | CENPF | Zornitza Stark Marked gene: CENPF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.545 | CENPF | Zornitza Stark Gene: cenpf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.545 | CENPF | Zornitza Stark Classified gene: CENPF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.545 | CENPF | Zornitza Stark Gene: cenpf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.544 | CENPF |
Zornitza Stark gene: CENPF was added gene: CENPF was added to Cataract. Sources: Literature Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to 26820108 Phenotypes for gene: CENPF were set to Stromme syndrome, MIM# 243605 Review for gene: CENPF was set to AMBER Added comment: PMID 26820108 reports 4 individuals from 2 families with biallelic truncating CENPF variants presenting with Strømme syndrome, which includes congenital cataract, microphthalmia, intestinal atresia, and microcephaly. Cataracts not consistently reported in other affected individuals. Sources: Literature |
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