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| Unexplained young onset end-stage renal disease v0.2 | RPGRIP1L | Eleanor Williams reviewed gene: RPGRIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.2 | GRIP1 | Eleanor Williams reviewed gene: GRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.1 | RPGRIP1L |
Eleanor Williams gene: RPGRIP1L was added gene: RPGRIP1L was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RPGRIP1L were set to Meckel syndrome 5 611561; Ciliopathy genes associated with cystic kidney disease; COACH syndrome 216360; Joubert syndrome 7 611560 |
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| Unexplained young onset end-stage renal disease v0.1 | GRIP1 |
Eleanor Williams gene: GRIP1 was added gene: GRIP1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GRIP1 were set to 24700879; 14730302; 24357607; 22510445 Phenotypes for gene: GRIP1 were set to Fraser syndrome 219000; Fraser syndrome; isolated CAKUT |
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