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Intellectual disability

Gene: KCNB2

Green List (high evidence)
KCNB2 (potassium voltage-gated channel subfamily B member 2)
EnsemblGeneIds (GRCh38): ENSG00000182674
EnsemblGeneIds (GRCh37): ENSG00000182674
OMIM: 607738, Gene2Phenotype
KCNB2 is in 3 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.
Panel Version: 7.41
Comment on list classification: As reviewed by Zornitza Stark, PMID:38503299 reported seven unrelated individuals with monoallelic KCNB2 variants and neurodevelopmental disorder, of which six of them had intellectual disability.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Created: 26 Jun 2024, 4:38 p.m. | Last Modified: 26 Jun 2024, 4:39 p.m.
Panel Version: 6.42

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Created: 26 Jun 2024, 4:33 p.m.
Last Modified: 26 Jun 2024, 4:39 p.m.
Panel version: 7.41

Zornitza Stark (Australian Genomics)

Green List (high evidence)

7 individuals, all missense
5 de novo + 1x inherited from father who has hypotonia + 1x from asymptomatic father

2/5 MRI anomalies
2/5 cardiac anomalies
2/7 urogenital anomalies
7/7 with ID
2/7 epilepsy
2/7 hypotonia
Sources: Literature
Created: 22 Apr 2024, 8:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder MONDO:0700092, KCNB2-related

Publications

Created: 22 Apr 2024, 8:24 a.m.

Panel version: 5.532

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • intellectual disability, MONDO:0001071
Tags
gene-checked
OMIM
607738
Clinvar variants
Variants in KCNB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: KCNB2.

26 Sep 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: KCNB2.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to KCNB2. Source Expert Review Green was added to KCNB2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

26 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: kcnb2 has been classified as Amber List (Moderate Evidence).

26 Jun 2024, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: KCNB2 were changed from neurodevelopmental disorder MONDO:0700092, KCNB2-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

26 Jun 2024, Gel status: 0

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green tag was added to gene: KCNB2.

22 Apr 2024, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: KCNB2 was added gene: KCNB2 was added to Intellectual disability - microarray and sequencing. Sources: Literature Mode of inheritance for gene: KCNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNB2 were set to 38503299 Phenotypes for gene: KCNB2 were set to neurodevelopmental disorder MONDO:0700092, KCNB2-related Review for gene: KCNB2 was set to GREEN