CENPF

centromere protein F
OMIM: 600236
PanelMode of inheritanceDetails
8 panels
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome 243605
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
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Stromme syndrome 243605
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
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
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
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MPD, microcephalic primordial dwarfism, Stromme syndrome, 243605, Microcephaly
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