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| Unexplained young onset end-stage renal disease v4.3 | IFT140 | Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: IFT140. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.3 | IFT140 | Arina Puzriakova reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v4.2 | IFT140 |
Achchuthan Shanmugasundram Source Expert Review Green was added to IFT140. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Unexplained young onset end-stage renal disease v3.21 | IFT140 | Achchuthan Shanmugasundram reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964, cystic kidney disease, MONDO:0002473, Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.18 | IFT140 | Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: IFT140. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Unexplained young onset end-stage renal disease v3.17 | IFT140 |
Achchuthan Shanmugasundram gene: IFT140 was added gene: IFT140 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: IFT140 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920; cystic kidney disease, MONDO:0002473; short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964 |
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