| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ciliopathies v1.84 | RSG1 | Zornitza Stark Marked gene: RSG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.84 | RSG1 | Zornitza Stark Gene: rsg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.84 | RSG1 | Zornitza Stark Classified gene: RSG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.84 | RSG1 | Zornitza Stark Gene: rsg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.83 | RSG1 |
Zornitza Stark gene: RSG1 was added gene: RSG1 was added to Ciliopathies. Sources: Literature Mode of inheritance for gene: RSG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RSG1 were set to 40593758 Phenotypes for gene: RSG1 were set to Ciliopathy, MONDO:0005308, RSG1-related Review for gene: RSG1 was set to GREEN Added comment: Three individuals from unrelated families reported with bi-allelic variants and displaying cleft palate, tongue lobulations and polydactyly, phenotypes characteristic of Oral-Facial-Digital Syndrome. Variants were shown to disrupt two vital steps of ciliogenesis, basal body docking and recruitment of intraflagellar transport proteins. Sources: Literature |
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