This Panel is marked as Internal
Joubert syndrome
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
1 review
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
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Joubert syndrome
- nephronophthisis
- OMIM
- 604557
- Clinvar variants
- Variants in ZNF423
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Retinal disorders
- Structural eye disease
- Unexplained kidney failure in young people
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Rare multisystem ciliopathy disorders
- Fetal anomalies
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Skeletal dysplasia
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
History Filter Activity
17 Nov 2016, Gel status: 0
Approved Gene
Alice Gardham (Genomics England)This proposed gene was validated and added to this panel
16 Mar 2016, Gel status: 0
Added New Source
Penny Clouston (Oxford)ZNF423 was added to Joubert syndromepanel. Sources: Expert Review
16 Mar 2016, Gel status: 0
Created
Penny Clouston (Oxford)ZNF423 was created by PennyC