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| Unexplained young onset end-stage renal disease v0.42 | IFT43 | Moin Saleem reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.41 | IFT43 | Eleanor Williams reviewed gene: IFT43: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v0.40 | IFT43 |
Eleanor Williams gene: IFT43 was added gene: IFT43 was added to Unexplained paediatric onset end-stage renal disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: IFT43 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT43 were set to 22791528; 29896747; 21378380; 24027799; 28400947; 26892345 Phenotypes for gene: IFT43 were set to Cranioectodermal dysplasia 3, 614099; Sensenbrenner syndrome; Short-rib thoracic dysplasia 18 with polydactyly, 617866 |
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