Renal and urinary tract disorders
Gene: ZNF423EnsemblGeneIds (GRCh38): ENSG00000102935
EnsemblGeneIds (GRCh37): ENSG00000102935
OMIM: 604557, Gene2Phenotype
ZNF423 is in 15 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 604557
- Clinvar variants
- Variants in ZNF423
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Tubulointerstitial kidney disease
- Structural eye disease
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Neurological ciliopathies
- Retinal disorders
- Unexplained kidney failure in young people
- Cystic kidney disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: Found in 2 families worldwide
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: ZNF423
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ZNF423 was added gene: ZNF423 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: ZNF423 was set to Unknown Phenotypes for gene: ZNF423 were set to Ciliopathy genes associated with cystic kidney disease