Neurological ciliopathies
Gene: CENPF

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

1 review

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

26820108

Created: 25 Jan 2017, 11:55 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.449

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green

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

26820108

Panels with this gene

History Filter Activity

26 Apr 2024, Gel status: 3

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

25 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: CENPF was added gene: CENPF was added to Neurological ciliopathies. Sources: 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

Neurological ciliopathies Gene: CENPF