| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.66 | CCT2 | Zornitza Stark Marked gene: CCT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.66 | CCT2 | Zornitza Stark Gene: cct2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.66 | CCT2 |
Zornitza Stark gene: CCT2 was added gene: CCT2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: NHS GMS Mode of inheritance for gene: CCT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCT2 were set to 27645772; 29450543 Phenotypes for gene: CCT2 were set to Leber's congenital amaurosis Review for gene: CCT2 was set to RED Added comment: Single family reported with compound het missense variants, functional data, including animal model. Sources: NHS GMS |
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