Adult onset neurodegenerative disorder
Gene: CCNFEnsemblGeneIds (GRCh38): ENSG00000162063
EnsemblGeneIds (GRCh37): ENSG00000162063
OMIM: 600227, Gene2Phenotype
CCNF is in 1 panel
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Associated with a amyotrophic lateral sclerosis and frontotemporal dementia phenotype.Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Frontotemporal dementia / amyotrophic lateral sclerosis
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 5:35 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, OMIM:619141
- OMIM
- 600227
- Clinvar variants
- Variants in CCNF
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CCNF were changed from Frontotemporal dementia / amyotrophic lateral sclerosis to Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, OMIM:619141
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: CCNF were changed from to Frontotemporal dementia / amyotrophic lateral sclerosis
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: CCNF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to CCNF.
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: CCNF were set to
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: ccnf has been classified as Green List (High Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CCNF.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CCNF was added gene: CCNF was added to Neurodegenerative disorders - adult onset. Sources: London North GLH Mode of inheritance for gene: CCNF was set to