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| Retinal disorders v9.5 | Chr17q22 | Katie Cox reviewed Region: Chr17q22: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33022222; Phenotypes: RETINITIS PIGMENTOSA 17 (OMIM #600852); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v9.5 | Chr17q22 | Katie Cox Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinal disorders v9.5 | Chr17q22 |
Katie Cox changed review comment from: Structural variants in the RP17 locus (Chr17q22) have been associated with retinitis pigmentosa 17, breakpoints within the genomic region spanning YPEL2 to LINC01476. Sources: Literature; to: Structural variants in the RP17 locus (Chr17q22) have been associated with retinitis pigmentosa 17, breakpoints within the genomic region spanning YPEL2 to LINC01476. Sources: Literature |
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| Retinal disorders v9.5 | Chr17q22 |
Katie Cox Region: Chr17q22 was added Region: Chr17q22 was added to Retinal disorders. Sources: Literature Mode of inheritance for Region: Chr17q22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: Chr17q22 were set to PMID: 33022222 Phenotypes for Region: Chr17q22 were set to Retinitis pigmentosa Penetrance for Region: Chr17q22 were set to Complete Review for Region: Chr17q22 was set to GREEN Region: Chr17q22 was marked as current diagnostic Added comment: Structural variants in the RP17 locus (Chr17q22) have been associated with retinitis pigmentosa 17, breakpoints within the genomic region spanning YPEL2 to LINC01476. Sources: Literature |
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