Renal ciliopathies
Gene: CENPFEnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 16 panels
3 reviews
Eleanor Williams (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.Created: 8 Mar 2022, 10:44 a.m. | Last Modified: 8 Mar 2022, 10:44 a.m.
Panel Version: 1.51
After consultation with the Genomics England rare disease clinical team it has been agreed that the phenotype is not typical of renal ciliopathy and so it should be downgraded to RED at the next major review. It is green on the Neurological and Ophthalmological ciliopathies panels and so will still be included in the Rare multisystem ciliopathy Super panel.Created: 7 Jul 2020, 10:28 a.m. | Last Modified: 7 Jul 2020, 10:28 a.m.
Panel Version: 1.23
Zornitza Stark (Australian Genomics)
Renal hypodysplasia and hydronephrosis rather than cysts described in this condition.Created: 3 Jan 2020, 3:42 a.m. | Last Modified: 3 Jan 2020, 3:42 a.m.
Panel Version: 1.0
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome, MIM# 243605
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 Green
- Orphanet
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Stromme syndrome, OMIM:243605
- Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
- 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
Removed Tag
Eleanor Williams (Genomics England Curator)Tag for-review was removed from gene: CENPF.
Set Phenotypes
Eleanor Williams (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
Eleanor Williams (Genomics England Curator)Tag for-review tag was added to gene: CENPF.
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 Renal 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