| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 | RP1 | Belinda Chong reviewed gene: RP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31213501, 15863674, 15863674; Phenotypes: Retinitis pigmentosa 1 MIM#180100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 | RP1 | Belinda Chong Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.124 | RP1 | Belinda Chong reviewed gene: RP1: Rating: ; Mode of pathogenicity: None; Publications: 10391211, 10465120, 10465120, 10484783, 29425069, 31213501; Phenotypes: Retinitis pigmentosa 1 MIM#180100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 | RP1L1 |
Bryony Thompson gene: RP1L1 was added gene: RP1L1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RP1L1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RP1L1 were set to 31833436; 31236346; 30025130 Phenotypes for gene: RP1L1 were set to retinitis pigmentosa; Occult macular dystrophy, 613587 |
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.0 | RP1 |
Bryony Thompson gene: RP1 was added gene: RP1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RP1 were set to Retinitis pigmentosa 1, 180100 |
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