Skeletal ciliopathies


No list

CENPF (centromere protein F)
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 18 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)

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

Stromme syndrome 243605


History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: CENPF.

15 Nov 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: cenpf has been removed from the panel.

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 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