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| Retinitis pigmentosa_Autosomal Dominant v0.51 | RP1 | Belinda Chong reviewed gene: RP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391211, 10391211, 29425069; Phenotypes: Retinitis pigmentosa 1 MIM#180100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.51 | RP1 | Belinda Chong Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.51 | RP1 |
Belinda Chong commented on gene: RP1: RPI refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting. Retinitis pigmentosa-1 (RP1) is caused by heterozygous, homozygous, or compound heterozygous mutation in the ORP1 gene (RP1). Dominant inheritance form(s) in 3 to 4% of cases |
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| Retinitis pigmentosa_Autosomal Dominant v0.51 | 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 Dominant v0.0 | RP1 |
Bryony Thompson gene: RP1 was added gene: RP1 was added to Autosomal Dominant 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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