Primary ciliary disorders
Gene: CENPF
CENPF (centromere protein F)
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 16 panels
1 review
Ian Berry (Leeds Genetics Laboratory)
See Waters et al. J Med Genet. 2015 Mar;52(3):147-56. Unclear whether the two cases described in this paper really fit a PCD phenotype, despite the fact that the gene is listed as a cause of PCD on OMIM. Two affected cases appear to have significantly variable phenotypes, indicating the causation and effects of this gene remain somewhat opaque.Created: 8 Dec 2015, 5:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 31, 616369
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ciliary dyskinesia, primary, 31, 616369
- OMIM
- 600236
- Clinvar variants
- Variants in CENPF
- Penetrance
- Complete
- Panels with this gene
-
- Ophthalmological ciliopathies
- Skeletal ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Severe microcephaly
- Structural eye disease
- Intellectual disability
- Fetal anomalies
- DDG2P
- Hydrocephalus
- Respiratory ciliopathies including non-CF bronchiectasis
- Neurological ciliopathies
- Renal ciliopathies
- Limb disorders
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- CAKUT
History Filter Activity
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
10 May 2016, Gel status: 1
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
8 Dec 2015, Gel status: 0
Added New Source
Ian Berry (Leeds Genetics Laboratory)CENPF was added to Primary ciliary disorderspanel. Sources: Leeds Genetics Laboratory
8 Dec 2015, Gel status: 0
Created
Ian Berry (Leeds Genetics Laboratory)CENPF was created by [email protected]