Genomics England

CENPF

centromere protein F

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Hydrocephalus R-numbers: R86 Signed-off version 2.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Stromme syndrome 243605
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Stromme syndrome 243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polydactyly, Stromme syndrome 243605
Green in Neurological ciliopathies Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 1.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Stromme syndrome, 243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 1.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Stromme syndrome, 243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Stromme syndrome, 243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Green in Severe microcephaly R-numbers: R88 Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MPD, microcephalic primordial dwarfism, Stromme syndrome, 243605, Microcephaly
Green in Unexplained paediatric onset end-stage renal disease R-numbers: R257 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Stromme syndrome, 243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome