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Intellectual disability

Gene: KCND2

Green List (high evidence)
KCND2 (potassium voltage-gated channel subfamily D member 2)
EnsemblGeneIds (GRCh38): ENSG00000184408
EnsemblGeneIds (GRCh37): ENSG00000184408
OMIM: 605410, Gene2Phenotype
KCND2 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 14 Mar 2022, 2:22 p.m. | Last Modified: 14 Mar 2022, 2:22 p.m.
Panel Version: 3.1519
Created: 14 Mar 2022, 2:22 p.m.
Last Modified: 14 Mar 2022, 2:22 p.m.
Panel version: 3.1519

Eleanor Williams (Genomics England Curator)

Comment on list classification: Promoting from red to amber but with a recommendation for green rating following GMS review. 3 cases reported with missense variants in this gene with no seizures, plus further cases with seizures.
Created: 12 Dec 2021, 12:55 p.m. | Last Modified: 12 Dec 2021, 12:55 p.m.
Panel Version: 3.1481
6 new unrelated cases with developmental delay reported in PMID: 34245260 (Zhang et al 2021), 3 of whom had seizures. All had heterozygous missense variants of KCND2 in sites known to be critical for channel gating (E323K, P403A, two individuals, V404L, two individuals and V404M). Functional studies suggest that these missense changes cause both a partial loss-of-function (LOF) and gain-of-function (GOF). The V404 change appears to increase epileptic seizure susceptibility with the 3 patients with a V404 change showing this phenotype.

PMID:16934482 - Singh et al, 2006 - reports a patient with cognitive impairment who also went on to have seizures starting from age 13 with a 5 bp deletion in KCND2 leading to premature stop codon. The proband's asymptomatic father also shared this variant.

Also:
PMID:24501278 - Lee et al, 2014 - reports pair of monozygotic twin boys with infantile onset severe refractory epilepsy and autism. A de novo heterozygous missense variant was identified by WES - V404M.
Sources: Literature
Created: 12 Dec 2021, 12:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
global developmental delay, HP:0001263

Publications

Mode of pathogenicity
Other

Created: 12 Dec 2021, 12:54 p.m.

Panel version: 3.1480

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • global developmental delay, HP:0001263
Tags
gene-checked
OMIM
605410
Clinvar variants
Variants in KCND2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

4 May 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: KCND2.

14 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag Q4_21_rating was removed from gene: KCND2.

14 Mar 2022, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to KCND2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

12 Dec 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: kcnd2 has been classified as Amber List (Moderate Evidence).

12 Dec 2021, Gel status: 1

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q4_21_rating tag was added to gene: KCND2.

12 Dec 2021, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: KCND2 was added gene: KCND2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: KCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KCND2 were set to 34245260; 16934482; 24501278 Phenotypes for gene: KCND2 were set to global developmental delay, HP:0001263 Mode of pathogenicity for gene: KCND2 was set to Other