This Panel is marked as Deleted
Kidneyome_SuperPanel_KidGen_VCGS
Gene: CENPF
CENPF (centromere protein F)
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000117724
EnsemblGeneIds (GRCh37): ENSG00000117724
OMIM: 600236, Gene2Phenotype
CENPF is in 16 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Stromme syndrome, MIM#243605
- OMIM
- 600236
- Clinvar variants
- Variants in CENPF
- Penetrance
- None
- Panels with this gene
-
- Neurological ciliopathies
- Primary ciliary disorders
- Limb disorders
- Severe microcephaly
- Structural eye disease
- Fetal anomalies
- Skeletal ciliopathies
- CAKUT
- Ophthalmological ciliopathies
- Renal ciliopathies
- Intellectual disability
- Hydrocephalus
- Childhood onset dystonia, chorea or related movement disorder
- Respiratory ciliopathies including non-CF bronchiectasis
- DDG2P
- Rare multisystem ciliopathy disorders
History Filter Activity
24 Dec 2019, Gel status: 3
Set Phenotypes
Ivone Leong (Genomics England Curator)Added phenotypes Stromme syndrome, MIM#243605 for gene: CENPF
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CENPF was added gene: CENPF was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CENPF were set to Stromme syndrome, MIM#243605