Early-onset Dementia
Gene: CCNF
Phenotypes
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141
Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 05/04/2022Created: 21 Jun 2023, 10:23 p.m. | Last Modified: 21 Jun 2023, 10:23 p.m.
Panel Version: 0.160
Four cases, within three families with FTD with/without ALS.
Sources: Expert listCreated: 28 Mar 2020, 5:51 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
amyotrophic lateral sclerosis with/without frontotemporal dementia
Publications
Gene: ccnf has been classified as Amber List (Moderate Evidence).
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
Gene: ccnf has been classified as Green List (High Evidence).
Gene: ccnf has been classified as Green List (High Evidence).
gene: CCNF was added gene: CCNF was added to Early-onset Dementia. 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 Phenotypes for gene: CCNF were set to amyotrophic lateral sclerosis with/without frontotemporal dementia Review for gene: CCNF was set to GREEN