Renal ciliopathies
Gene: CENPF
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.Created: 8 Mar 2022, 10:44 a.m. | Last Modified: 8 Mar 2022, 10:44 a.m.
Panel Version: 1.51
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
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
Clinical features are said to resemble ciliopathy in some cases. Mutations identified in at least four families and supported by animal modelCreated: 25 Jan 2017, 11:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome 243605
Publications
Tag for-review was removed from gene: CENPF.
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
Tag for-review tag was added to gene: CENPF.
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