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| Retinitis pigmentosa v0.183 | Bryony Thompson Copied gene C1QTNF5 from panel Retinitis pigmentosa_Autosomal Dominant | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa v0.183 | C1QTNF5 |
Bryony Thompson gene: C1QTNF5 was added gene: C1QTNF5 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: C1QTNF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: C1QTNF5 were set to 33949280; 12944416; 30451557; 28939808; 32036094 Phenotypes for gene: C1QTNF5 were set to Retinal degeneration, late-onset, autosomal dominant MIM#605670 Mode of pathogenicity for gene: C1QTNF5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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