Incidentalome
Gene: CCNFEnsemblGeneIds (GRCh38): ENSG00000162063
EnsemblGeneIds (GRCh37): ENSG00000162063
OMIM: 600227, Gene2Phenotype
CCNF is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
LIMITED by ClinGenCreated: 22 Nov 2023, 12:58 a.m. | Last Modified: 22 Nov 2023, 12:58 a.m.
Panel Version: 0.295
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 05/04/2022Created: 21 Aug 2023, 11:25 p.m. | Last Modified: 21 Aug 2023, 11:25 p.m.
Panel Version: 0.261
>3 families/cases and supporting functional evidence
Sources: Expert listCreated: 28 Mar 2020, 6:16 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
amyotrophic lateral sclerosis with/without frontotemporal dementia
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141
- OMIM
- 600227
- Clinvar variants
- Variants in CCNF
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ccnf has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ccnf has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ccnf has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CCNF were changed from amyotrophic lateral sclerosis with/without frontotemporal dementia to Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ccnf has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CCNF was added gene: CCNF was added to Incidentalome. Sources: Expert list Mode of inheritance for gene: CCNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCNF were set to 27080313; 31577344 Phenotypes for gene: CCNF were set to amyotrophic lateral sclerosis with/without frontotemporal dementia Review for gene: CCNF was set to GREEN