Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Cerebral Palsy v1.193 KIF1A Clare van Eyk reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Spastic paraplegia 30, autosomal dominant, MIM# 610357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v0.36 KIF1A Zornitza Stark Marked gene: KIF1A as ready
Cerebral Palsy v0.36 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Cerebral Palsy v0.36 KIF1A Zornitza Stark Classified gene: KIF1A as Green List (high evidence)
Cerebral Palsy v0.36 KIF1A Zornitza Stark Gene: kif1a has been classified as Green List (High Evidence).
Cerebral Palsy v0.35 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: KIF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF1A were set to 31700678
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal dominant, MIM# 610357
Review for gene: KIF1A was set to GREEN
Added comment: Overlapping phenotype and at least two individuals identified as part of a CP cohort.
Sources: Literature