CENPF

centromere protein F
OMIM: 600236
PanelMode of inheritanceDetails
11 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome, OMIM:243605
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome, OMIM:243605
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome, OMIM:243605
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome, OMIM:243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome, OMIM:243605
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome, OMIM: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 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome, OMIM: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 3.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome, OMIM:243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
R-numbers: R88
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome, OMIM:243605, Microcephalic primordial dwarfism
R-numbers: R36
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome, OMIM:243605, MONDO:0009477
R-numbers: R257
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stromme syndrome, OMIM:243605, Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome