Limb disorders
Gene: CENPFEnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 16 panels
1 review
Eleanor Williams (Genomics England Curator)
Comment on list classification: Adding this gene to the panel as it is has been removed from the skeletal ciliopathies panel as the skeletal phenotype is polydactyly only.Created: 27 Nov 2019, 3:46 p.m. | Last Modified: 27 Nov 2019, 3:46 p.m.
Panel Version: 1.132
Comment on list classification: Gene made grey as it is green on the Rare multisystem ciliopathy disorders panel (v1.78) and the ciliopathy panel will be applied if a patient is suspected of having a ciliopathy, or the possibility of a ciliopathy cannot be excluded.Created: 2 Dec 2018, 10:43 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Stromme syndrome, OMIM:243605
- OMIM
- 600236
- Clinvar variants
- Variants in CENPF
- Penetrance
- None
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- DDG2P
- Fetal anomalies
- Hydrocephalus
- Respiratory ciliopathies including non-CF bronchiectasis
- Skeletal ciliopathies
- Neurological ciliopathies
- Structural eye disease
- Severe microcephaly
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- CAKUT
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CENPF were changed from Polydactyly; Stromme syndrome 243605 to Stromme syndrome, OMIM:243605
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cenpf has been classified as Green List (High Evidence).
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: CENPF were changed from Polydactyly to Polydactyly; Stromme syndrome 243605
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: CENPF was changed from to BIALLELIC, autosomal or pseudoautosomal
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Eleanor Williams: Comment on list classification
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cenpf has been removed from the panel.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cenpf has been removed from the panel.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Removed was added to CENPF. Rating Changed from Red List (low evidence) to No List (delete)
Added New Source
Ellen McDonagh (Genomics England Curator)CENPF was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)CENPF was created by Ellen McDonagh