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Cerebral Palsy v1.320 KCNB1 Zornitza Stark Publications for gene: KCNB1 were set to 33528536; 34788679
Cerebral Palsy v1.319 KCNB1 Zornitza Stark Classified gene: KCNB1 as Green List (high evidence)
Cerebral Palsy v1.319 KCNB1 Zornitza Stark Gene: kcnb1 has been classified as Green List (High Evidence).
Cerebral Palsy v1.315 KCNB1 Clare van Eyk edited their review of gene: KCNB1: Added comment: Additional case with de novo likely pathogenic variant, diagnosed with spastic diplegic cerebral palsy with unclear cause (PMID: 38168508).; Changed rating: GREEN; Changed publications: PMID: 38693247, 38168508
Cerebral Palsy v1.193 KCNB1 Clare van Eyk reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38693247; Phenotypes: Developmental and epileptic encephalopathy 26, MIM#616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebral Palsy v1.97 KCNB1 Zornitza Stark Marked gene: KCNB1 as ready
Cerebral Palsy v1.97 KCNB1 Zornitza Stark Gene: kcnb1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.97 KCNB1 Zornitza Stark Classified gene: KCNB1 as Red List (low evidence)
Cerebral Palsy v1.97 KCNB1 Zornitza Stark Gene: kcnb1 has been classified as Red List (Low Evidence).
Cerebral Palsy v1.86 KCNB1 Luisa Weiss gene: KCNB1 was added
gene: KCNB1 was added to Cerebral Palsy. Sources: Literature
Mode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNB1 were set to 33528536; 34788679
Phenotypes for gene: KCNB1 were set to Developmental and epileptic encephalopathy MIM#616056
Review for gene: KCNB1 was set to AMBER
Added comment: One case each in two large CP cohort studies with heterozygous missense mutations, only one of the mutations confirmed de novo.
Sources: Literature