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| Cataract v0.202 | LONP1 | Zornitza Stark Marked gene: LONP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.202 | LONP1 | Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.202 | LONP1 | Zornitza Stark Classified gene: LONP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.202 | LONP1 | Zornitza Stark Gene: lonp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.201 | LONP1 |
Naomi Baker changed review comment from: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of pateints with infantile cataract identified a biallelic LONP1 mutation in patient with stand-alone cataract (PMID: 29408517). Sources: Literature; to: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of patients with infantile cataract identified a biallelic LONP1 mutation in a patient who was otherwise healthy (PMID: 29408517). Sources: Literature |
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| Cataract v0.201 | LONP1 |
Naomi Baker gene: LONP1 was added gene: LONP1 was added to Cataract. Sources: Literature Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LONP1 were set to PMID: 25574826; 29408517. Phenotypes for gene: LONP1 were set to CODAS syndrome MIM# 600373 Penetrance for gene: LONP1 were set to Complete Review for gene: LONP1 was set to GREEN Added comment: Cataract is a common feature of CODAS (cerebral, ocular, dental, auricular, and skeletal anomalies) syndrome, which results from biallelic LONP1 mutations. One review of pateints with infantile cataract identified a biallelic LONP1 mutation in patient with stand-alone cataract (PMID: 29408517). Sources: Literature |
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