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| Unexplained young onset end-stage renal disease v0.48 | MUC1 | Eleanor Williams Mode of pathogenicity for gene: MUC1 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.47 | MUC1 | Eleanor Williams Publications for gene: MUC1 were set to 25738250; 24670410; 23396133; 27157321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.46 | MUC1 | Eleanor Williams commented on gene: MUC1: Numerous reports of variants within VNTR associated with mutant protein and single report of 2bp deletion outside VNTR with equivalent effect on protein (PMID: 29156055). Note: variants within VNTR are unlikely to be detected by NGS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.2 | MUC1 | Eleanor Williams reviewed gene: MUC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.1 | MUC1 |
Eleanor Williams gene: MUC1 was added gene: MUC1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: MUC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MUC1 were set to 25738250; 24670410; 23396133; 27157321 Phenotypes for gene: MUC1 were set to Medullary cystic kidney disease 1, 174000; Medullary cystic kidney disease 1 |
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