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| Retinitis pigmentosa_Autosomal Dominant v0.71 | NRL | Zornitza Stark Marked gene: NRL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.71 | NRL | Zornitza Stark Gene: nrl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.71 | NRL | Zornitza Stark Phenotypes for gene: NRL were changed from Retinitis pigmentosa 27, 613750 to Retinitis pigmentosa 27, MIM#613750; retinitis pigmentosa 27 MONDO:0013402 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.70 | NRL | Zornitza Stark Publications for gene: NRL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.69 | NRL | Zornitza Stark Mode of pathogenicity for gene: NRL 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 v0.68 | NRL | Zornitza Stark Mode of inheritance for gene: NRL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.57 | NRL | Sangavi Sivagnanasundram reviewed gene: NRL: 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: 10192380, 11039579, 11385710, 11879142, 15994872, 21981118, 27081294, 28106895, 31736247, 35653045; Phenotypes: retinitis pigmentosa 27 MONDO:0013402; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Dominant v0.0 | NRL |
Bryony Thompson gene: NRL was added gene: NRL was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NRL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: NRL were set to Retinitis pigmentosa 27, 613750 |
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