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| Tubulointerstitial kidney disease v1.19 | ZNF423 | Arina Puzriakova Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19 MIM 614844; Nephronopthisis 14 to Joubert syndrome 19, OMIM:614844; Nephronophthisis 14, OMIM:614844 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.8 | ZNF423 | Eleanor Williams Classified gene: ZNF423 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.8 | ZNF423 | Eleanor Williams Added comment: Comment on list classification: Changing rating to Amber after discussion of 3 cases in NHS GMS renal specialist group call on 2019-02-04 - one case NPHP, one Joubert with PKD, one PKD/NPHP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.8 | ZNF423 | Eleanor Williams Gene: znf423 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.3 | ZNF423 | Eleanor Williams reviewed gene: ZNF423: Rating: GREEN; Mode of pathogenicity: ; Publications: Chaki et al Cell 150: 533-548, 2012. PubMed: 22863007; Phenotypes: Nephronopthisis 14, Joubert syndrome 19 MIM 614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Tubulointerstitial kidney disease v0.2 | ZNF423 |
Eleanor Williams gene: ZNF423 was added gene: ZNF423 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ZNF423 were set to 22863007 Phenotypes for gene: ZNF423 were set to Joubert syndrome 19 MIM 614844; Nephronopthisis 14 |
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