Respiratory ciliopathies including non-CF bronchiectasis
Gene: CENPFEnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 16 panels
3 reviews
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Comment on list classification: No further evidence since review by Ian Berry in 2015.Created: 20 Jan 2019, 5:34 p.m.
Louise Daugherty (Genomics England Curator)
From GMS Respiratory Specialist Test Group webex call 18th Jan 2019: it as decided to downgrade this gene from Green to Red, there is no further evidence since 2015 publicationCreated: 21 Jan 2019, 5:13 p.m.
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: CENPF; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
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
-
- NHS GMS
- Phenotypes
-
- Ciliary dyskinesia, primary, 31, 616369
- OMIM
- 600236
- Clinvar variants
- Variants in CENPF
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- DDG2P
- Hydrocephalus
- Respiratory ciliopathies including non-CF bronchiectasis
- Skeletal ciliopathies
- Neurological ciliopathies
- Structural eye disease
- Fetal anomalies
- Severe microcephaly
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
History Filter Activity
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: cenpf has been classified as Red List (Low Evidence).
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene CENPF was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 31, 616369 for gene: CENPF
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to CENPF. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CENPF was added gene: CENPF was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: CENPF was set to