| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.610 | CWC27 | Zornitza Stark Marked gene: CWC27 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.610 | CWC27 | Zornitza Stark Gene: cwc27 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.610 | CWC27 | Zornitza Stark Classified gene: CWC27 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.610 | CWC27 | Zornitza Stark Gene: cwc27 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.609 | CWC27 |
Zornitza Stark gene: CWC27 was added gene: CWC27 was added to Cataract. Sources: Literature Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWC27 were set to 38840272; 31481716 Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, MIM# 250410 Review for gene: CWC27 was set to AMBER Added comment: PMIDs 31481716 and 38840272 report 2 individuals from 2 unrelated families with biallelic loss-of-function CWC27 variants presenting with congenital cataract (often accompanied by retinal dystrophy, skeletal anomalies, short stature, intellectual disability, and hypergonadotropic hypogonadism). Sources: Literature |
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