Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Cerebral Palsy v1.260 KCNQ3 Zornitza Stark Marked gene: KCNQ3 as ready
Cerebral Palsy v1.260 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.260 KCNQ3 Zornitza Stark Classified gene: KCNQ3 as Red List (low evidence)
Cerebral Palsy v1.260 KCNQ3 Zornitza Stark Gene: kcnq3 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.193 KCNQ3 Clare van Eyk gene: KCNQ3 was added
gene: KCNQ3 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNQ3 were set to PMID: 38693247
Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, 2, MIM#121201
Review for gene: KCNQ3 was set to RED
Added comment: 1 individual with mono-allelic frameshift deletion and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided. No evidence for clinical overlap.
Sources: Literature