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  3. KCNB1
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Cerebral Palsy

Gene: KCNB1

Green List (high evidence)
KCNB1 (potassium voltage-gated channel subfamily B member 1)
EnsemblGeneIds (GRCh38): ENSG00000158445
EnsemblGeneIds (GRCh37): ENSG00000158445
OMIM: 600397, Gene2Phenotype
KCNB1 is in 4 panels

2 reviews

Clare van Eyk (University of Adelaide)

Green List (high evidence)

Additional case with de novo likely pathogenic variant, diagnosed with spastic diplegic cerebral palsy with unclear cause (PMID: 38168508).
Created: 26 Jun 2024, 4:16 a.m. | Last Modified: 26 Jun 2024, 4:16 a.m.
Panel Version: 1.315
Additional individual with mono-allelic LP missense variant and cerebral palsy reported in large-scale exome sequencing study. Detailed clinical information not provided.
Created: 27 May 2024, 6:17 a.m. | Last Modified: 27 May 2024, 6:17 a.m.
Panel Version: 1.193

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 26, MIM#616056

Publications

Created: 27 May 2024, 6:17 a.m.
Last Modified: 27 May 2024, 6:17 a.m.
Panel version: 1.315

Luisa Weiss (University of Adelaide)

I don't know

One case each in two large CP cohort studies with heterozygous missense mutations, only one of the mutations confirmed de novo.
Sources: Literature
Created: 8 Jun 2023, 2:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy MIM#616056

Publications

Created: 8 Jun 2023, 2:55 a.m.

Panel version: 1.86

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Developmental and epileptic encephalopathy MIM#616056
OMIM
600397
Clinvar variants
Variants in KCNB1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Jun 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNB1 were set to 33528536; 34788679

26 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnb1 has been classified as Green List (High Evidence).

10 Jul 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnb1 has been classified as Red List (Low Evidence).

10 Jul 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcnb1 has been classified as Red List (Low Evidence).

8 Jun 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Luisa Weiss (University of Adelaide)

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