Renal ciliopathies

Gene: CENPF

Green List (high evidence)

CENPF (centromere protein F)
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 17 panels

2 reviews

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

History Filter Activity

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