Cystic kidney disease
Gene: CEP164EnsemblGeneIds (GRCh38): ENSG00000110274
EnsemblGeneIds (GRCh37): ENSG00000110274
OMIM: 614848, Gene2Phenotype
CEP164 is in 15 panels
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: 4 families reported. Spectrum including syndromic and non-syndromic forms of renal and retinal disease.Created: 10 May 2016, 10:14 a.m.
Miranda Durkie (Genetics)
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 11:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 614848
- Clinvar variants
- Variants in CEP164
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Tubulointerstitial kidney disease
- Skeletal dysplasia
- Retinal disorders
- Fetal anomalies
- Cystic kidney disease
- Respiratory ciliopathies including non-CF bronchiectasis
- Unexplained kidney failure in young people
- Ductal plate malformation
- Thoracic dystrophies
- Primary ciliary disorders
- Limb disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for CEP164 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)CEP164 was added to Cystic kidney diseasepanel. Sources: Expert