Rare multisystem ciliopathy disorders
Gene: ZNF423EnsemblGeneIds (GRCh38): ENSG00000102935
EnsemblGeneIds (GRCh37): ENSG00000102935
OMIM: 604557, Gene2Phenotype
ZNF423 is in 15 panels
2 reviews
Alice Gardham (Genomics England)
Comment when marking as ready: Homozygous mutations only reported in two siblings with nephronophthisis and two Joubert patients found to have heterozygous mutationsCreated: 23 Jan 2017, 12:15 p.m.
Penny Clouston (Oxford)
On current diagnostic panel; no positive families in patient cohort to date.Created: 16 Mar 2016, 4:02 p.m.
Phenotypes
Joubert syndrome; nephronphthisis
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Other
- Orphanet
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Joubert syndrome 19, OMIM:614844
- Nephronophthisis 14, OMIM:614844
- OMIM
- 604557
- Clinvar variants
- Variants in ZNF423
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Tubulointerstitial kidney disease
- Cystic kidney disease
- Structural eye disease
- Renal ciliopathies
- Fetal anomalies
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Unexplained kidney failure in young people
- Retinal disorders
- Neurological ciliopathies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: ZNF423 were changed from Joubert syndrome 19, 614844; Nephronophthisis 14, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14 to Joubert syndrome 19, OMIM:614844; Nephronophthisis 14, OMIM:614844
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Alice Gardham (Genomics England)Publications for ZNF423 were set to 22863007
Added New Source
Ellen McDonagh (Genomics England Curator)ZNF423 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Added New Source
Ellen McDonagh (Genomics England Curator)ZNF423 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet
Upload gene information
Ellen McDonagh (Genomics England Curator)ZNF423 was added to Rare multisystem ciliopathy disorderspanel. Sources: Emory Genetics Laboratory
Upload gene information
Ellen McDonagh (Genomics England Curator)ZNF423 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene ZNF423 were set to Joubert syndrome 19, 614844;Nephronophthisis 14, 614844
Added New Source
Ellen McDonagh (Genomics England Curator)ZNF423 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)ZNF423 was created by ellenmcdonagh