| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.93 | CEP83 | Zornitza Stark Marked gene: CEP83 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.93 | CEP83 | Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.93 | CEP83 | Zornitza Stark Classified gene: CEP83 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.93 | CEP83 | Zornitza Stark Gene: cep83 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.92 | CEP83 |
Zornitza Stark gene: CEP83 was added gene: CEP83 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 24882706; 33938610 Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID Review for gene: CEP83 was set to GREEN Added comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis. PMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease. Sources: Expert Review |
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