Unexplained kidney failure in young people
Gene: ZNF423
ZNF423 (zinc finger protein 423)
EnsemblGeneIds (GRCh38): ENSG00000102935
EnsemblGeneIds (GRCh37): ENSG00000102935
OMIM: 604557, Gene2Phenotype
ZNF423 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000102935
EnsemblGeneIds (GRCh37): ENSG00000102935
OMIM: 604557, Gene2Phenotype
ZNF423 is in 15 panels
0 reviews
Details
- Sources
-
- Expert Review Red
- Expert
- Phenotypes
-
- Joubert syndrome 19, OMIM:614844
- Nephronophthisis 14, OMIM:614844
- OMIM
- 604557
- Clinvar variants
- Variants in ZNF423
- Penetrance
- Complete
- Panels with this gene
-
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Fetal anomalies
- Tubulointerstitial kidney disease
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Structural eye disease
- Retinal disorders
- Unexplained kidney failure in young people
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
History Filter Activity
31 Mar 2022, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ZNF423 were changed from Ciliopathy genes associated with cystic kidney disease to Joubert syndrome 19, OMIM:614844; Nephronophthisis 14, OMIM:614844
17 Aug 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
16 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)ZNF423 was created by sleigh
16 May 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)ZNF423 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Red