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