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| Retinitis pigmentosa_Autosomal Dominant v0.37 | C1QTNF5 | Ain Roesley Marked gene: C1QTNF5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.37 | C1QTNF5 | Ain Roesley Gene: c1qtnf5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.37 | C1QTNF5 | Ain Roesley Phenotypes for gene: C1QTNF5 were changed from Retinitis pigmentosa; Retinal degeneration, late-onset, autosomal dominant, 605670 to Retinal degeneration, late-onset, autosomal dominant MIM#605670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.36 | C1QTNF5 | Ain Roesley Publications for gene: C1QTNF5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.35 | C1QTNF5 | Ain Roesley Mode of pathogenicity for gene: C1QTNF5 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.34 | C1QTNF5 | Ain Roesley reviewed gene: C1QTNF5: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33949280, 12944416, 30451557, 28939808, : 32036094; Phenotypes: Retinal degeneration, late-onset, autosomal dominant MIM#605670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.0 | C1QTNF5 |
Bryony Thompson gene: C1QTNF5 was added gene: C1QTNF5 was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: C1QTNF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: C1QTNF5 were set to Retinitis pigmentosa; Retinal degeneration, late-onset, autosomal dominant, 605670 |
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