Tubulointerstitial kidney disease
Gene: ZNF423EnsemblGeneIds (GRCh38): ENSG00000102935
EnsemblGeneIds (GRCh37): ENSG00000102935
OMIM: 604557, Gene2Phenotype
ZNF423 is in 15 panels
1 review
Eleanor Williams (Genomics England Curator)
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 providedCreated: 2 Feb 2019, 12:48 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Nephronopthisis 14; Joubert syndrome 19 MIM 614844
Publications
- Chaki et al Cell 150: 533-548, 2012. PubMed: 22863007
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Joubert syndrome 19, OMIM:614844
- Nephronophthisis 14, OMIM:614844
- OMIM
- 604557
- Clinvar variants
- Variants in ZNF423
- Penetrance
- None
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19 MIM 614844; Nephronopthisis 14 to Joubert syndrome 19, OMIM:614844; Nephronophthisis 14, OMIM:614844
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: znf423 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)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