| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.84 | CRB2 | Zornitza Stark Marked gene: CRB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.84 | CRB2 | Zornitza Stark Gene: crb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.84 | CRB2 | Zornitza Stark Classified gene: CRB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.84 | CRB2 | Zornitza Stark Gene: crb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.83 | CRB2 |
Zornitza Stark gene: CRB2 was added gene: CRB2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRB2 were set to 30593785; 31438467; 33575434; 30239717 Phenotypes for gene: CRB2 were set to Retinitis pigmentosa Review for gene: CRB2 was set to AMBER Added comment: Single family reported with isolated RP. Multiple lines of functional evidence support role of CRB2 in retinal epithelium. Families also reported with multi-system ciliopathy phenotype. Sources: Expert Review |
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