Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Motor Neurone Disease v1.8 CCNF Zornitza Stark edited their review of gene: CCNF: Changed rating: AMBER
Motor Neurone Disease v0.193 CCNF Bryony Thompson edited their review of gene: CCNF: Changed rating: AMBER
Motor Neurone Disease v0.175 CCNF Bryony Thompson Classified gene: CCNF as Amber List (moderate evidence)
Motor Neurone Disease v0.175 CCNF Bryony Thompson Added comment: Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 05/04/2022
Motor Neurone Disease v0.175 CCNF Bryony Thompson Gene: ccnf has been classified as Amber List (Moderate Evidence).
Motor Neurone Disease v0.118 CCNF Zornitza Stark 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
Motor Neurone Disease v0.117 CCNF Zornitza Stark reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, MIM# 619141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Motor Neurone Disease v0.15 CCNF Bryony Thompson Marked gene: CCNF as ready
Motor Neurone Disease v0.15 CCNF Bryony Thompson Gene: ccnf has been classified as Green List (High Evidence).
Motor Neurone Disease v0.15 CCNF Bryony Thompson Classified gene: CCNF as Green List (high evidence)
Motor Neurone Disease v0.15 CCNF Bryony Thompson Gene: ccnf has been classified as Green List (High Evidence).
Motor Neurone Disease v0.14 CCNF Bryony Thompson gene: CCNF was added
gene: CCNF was added to Motor Neuron Disease. 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 29102476; 31577344; 27080313; 28105640; 31445393; 28852778
Phenotypes for gene: CCNF were set to amyotrophic lateral sclerosis with/without frontotemporal dementia
Review for gene: CCNF was set to GREEN
Added comment: >3 cases/families and supporting functional evidence
Sources: Expert list