Tubulointerstitial kidney diseaseGene: ZNF423
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.
Created: 12 Feb 2019, 4:10 p.m.
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:ZNF423;Suggested initial gene rating: Green;Evidence for inclusion: Shared phenotype MIM, 3 families in total, green if same phenotype, amber if 2 separate phenotypes - need clinical input;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 2 Feb 2019, 12:48 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Nephronopthisis 14; Joubert syndrome 19 MIM 614844
Gene: znf423 has been classified as Amber List (Moderate Evidence).
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