Ductal plate malformation
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Nephronophthisis 15 (614845)
- Tags
- OMIM
- 614848
- Clinvar variants
- Variants in CEP164
- Penetrance
- None
- 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
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: CEP164.
30 Nov 2018, Gel status: 0
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: New gene name is CPLANE
12 Nov 2018, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to CEP164. Rating Changed from Green List (high evidence) to No List (delete)
6 Nov 2018, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CEP164 was added gene: CEP164 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CEP164 were set to Nephronophthisis 15 (614845)