Skeletal ciliopathies
Gene: CENPFEnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 16 panels
2 reviews
Eleanor Williams (Genomics England Curator)
Comment on list classification: After consultation with the Genomics England clinical team, removing this gene from the skeletal ciliopathies panel as the phenotype is polydactyly only.Created: 15 Nov 2019, 12:22 p.m. | Last Modified: 15 Nov 2019, 12:22 p.m.
Panel Version: 0.16
Stromme syndrome - from OMIM - "Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac."
Polydactyly has been reported in one individual with compound heterozygous variants in CENPF (individual BII‐2) (PMID: 26820108 - Filges et al 2016).Created: 14 Nov 2019, 10:59 a.m. | Last Modified: 14 Nov 2019, 10:59 a.m.
Panel Version: 0.15
Alice Gardham (Genomics England)
Clinical features are said to resemble ciliopathy in some cases. Mutations identified in at least four families and supported by animal modelCreated: 25 Jan 2017, 11:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome 243605
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Orphanet
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Stromme syndrome, OMIM:243605
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
- Tags
- OMIM
- 600236
- Clinvar variants
- Variants in CENPF
- Penetrance
- None
- Publications
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CENPF were changed from Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome to Stromme syndrome, OMIM:243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: CENPF.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: cenpf has been removed from the panel.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CENPF was added gene: CENPF was added to Skeletal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to 26820108 Phenotypes for gene: CENPF were set to Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome