Renal ciliopathies

Gene: CENPF

Green List (high evidence)

CENPF (centromere protein F)
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 16 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

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)

Red List (low evidence)

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)

Green List (high evidence)

Clinical features are said to resemble ciliopathy in some cases. Mutations identified in at least four families and supported by animal model
Created: 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, 243605
  • Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Tags
for-review
OMIM
600236
Clinvar variants
Variants in CENPF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jul 2020, Gel status: 3

Added Tag

Eleanor Williams (Genomics England Curator)

Tag for-review tag was added to gene: CENPF.

10 Jul 2019, Gel status: 3

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