| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.543 | CAPN15 | Zornitza Stark Marked gene: CAPN15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.543 | CAPN15 | Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.543 | CAPN15 | Zornitza Stark Classified gene: CAPN15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.543 | CAPN15 | Zornitza Stark Gene: capn15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.542 | CAPN15 |
Zornitza Stark gene: CAPN15 was added gene: CAPN15 was added to Cataract. Sources: Literature Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN15 were set to 32885237 Phenotypes for gene: CAPN15 were set to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318 Review for gene: CAPN15 was set to GREEN Added comment: PMID 32885237 reports five individuals from four unrelated families with biallelic missense CAPN15 variants presenting with congenital ocular anomalies (microphthalmia, coloboma, cataract), growth delay, developmental delay, autism and sensorineural hearing loss. Segregation confirms autosomal recessive inheritance. Capn15 knockout mice recapitulate eye anomalies and reduced growth, supporting pathogenicity. Sources: Literature |
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