Unexplained kidney failure in young people
Gene: CEP164
CEP164 (centrosomal protein 164)
EnsemblGeneIds (GRCh38): ENSG00000110274
EnsemblGeneIds (GRCh37): ENSG00000110274
OMIM: 614848, Gene2Phenotype
CEP164 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000110274
EnsemblGeneIds (GRCh37): ENSG00000110274
OMIM: 614848, Gene2Phenotype
CEP164 is in 15 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least five variants reportedCreated: 4 Aug 2016, 10:32 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert
- Phenotypes
-
- Nephronophthisis 15 614845
- OMIM
- 614848
- Clinvar variants
- Variants in CEP164
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Tubulointerstitial kidney disease
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Limb disorders
- Retinal disorders
- Respiratory ciliopathies including non-CF bronchiectasis
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
17 Aug 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
4 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
4 Aug 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CEP164 were set to Nephronophthisis 15 614845
4 Aug 2016, Gel status: 4
Upload gene information
Sarah Leigh (Genomics England Curator)CEP164 was added to Unexplained kidney failure in young peoplepanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
20 Jun 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CEP164 were set to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 15 614845
16 May 2016, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)CEP164 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert,Expert Review Green
16 May 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)CEP164 was created by sleigh