Skeletal ciliopathiesGene: CENPF
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
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
Tag curated_removed tag was added to gene: CENPF.
Gene: cenpf has been removed from the panel.
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