Respiratory ciliopathies including non-CF bronchiectasis
Gene: CEP164EnsemblGeneIds (GRCh38): ENSG00000110274
EnsemblGeneIds (GRCh37): ENSG00000110274
OMIM: 614848, Gene2Phenotype
CEP164 is in 15 panels
2 reviews
Eleanor Williams (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 11 Dec 2025, 4:33 p.m. | Last Modified: 11 Dec 2025, 4:33 p.m.
Panel Version: 4.50
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There are three unrelated probands reported with biallelic CEP164 variants and non-CF bronchiectasis. Hence, this gene can be promoted to green rating in the next GMS update.Created: 4 Jul 2025, 10:44 a.m. | Last Modified: 4 Jul 2025, 10:44 a.m.
Panel Version: 4.6
The ClinGen Kidney Cystic and Ciliopathy Disorders expert panel has classified the association of CEP164 gene to ciliopathy (MONDO:0005308) as 'Definitive'. More information can be found in https://search.clinicalgenome.org/CCID:004416.
As per ClinGen curation, seven different variants have been reported in 6 probands in four publications (PMIDs: 22863007, 34132027, 27708425, 36273371), of which 3 probands have been associated with non-CF bronchiectasis. Two of them also had cough, pneumonia, rhinitis and/ or recurrent infections.
PMID:22863007 - This study reported four different patients with biallelic CEP164 variants, of which one patient with homozygous variant (p.Arg576Ter) had cerebeller vermis hypoplasia, facial dysmorphism, obesity, bronchiectasis and polydactyly in addition to nephronophthisis.
PMID:34556108 - 21 probands from the PCD cohort and 52 probands from non-CF bronchiectasis cohort were recruited in Wessex Genome Medicine Centre (GMC) and their genomes sequenced as part of Genomics England 100k genomes project. Compound heterozygous variants in CEP164 (p.Gln1410Ter/ p.Arg576Ter) were reported in one of these probands from non-CF bronchiectasis cohort.
PMID:36273371 - A patient with bronchiectasis was reported with atypical motile ciliopathy phenotype and the same compound heterozygous CEP164 variants as above.
Sources: LiteratureCreated: 4 Jul 2025, 10:42 a.m. | Last Modified: 17 Jul 2025, 1:45 p.m.
Panel Version: 4.41
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 15, OMIM:614845; Bronchiectasis, HP:0002110
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- Nephronophthisis 15, OMIM:614845
- Bronchiectasis, HP:0002110
- OMIM
- 614848
- Clinvar variants
- Variants in CEP164
- Penetrance
- None
- Publications
- 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
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_25_ promote_green was removed from gene: CEP164.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to CEP164. Source Expert Review Green was added to CEP164. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: cep164 has been classified as Amber List (Moderate Evidence).
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_25_ promote_green tag was added to gene: CEP164.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: CEP164 was added gene: CEP164 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP164 were set to 22863007; 34556108; 36273371 Phenotypes for gene: CEP164 were set to Nephronophthisis 15, OMIM:614845; Bronchiectasis, HP:0002110 Review for gene: CEP164 was set to GREEN