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Mendeliome

Gene: KCNA2

Green List (high evidence)

KCNA2 (potassium voltage-gated channel subfamily A member 2)
EnsemblGeneIds (GRCh38): ENSG00000177301
EnsemblGeneIds (GRCh37): ENSG00000177301
OMIM: 176262, Gene2Phenotype
KCNA2 is in 7 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Missense variants cluster within the ion transporter domain (Decipher)
The proline(405)–valine(406)–proline(407) (PVP) motif in transmembrane domain S6 is a mutational hotspot (Doring, 2021)

LOF mechanism is commonly used in papers, but are often referring to DN
Missense variants demonstrate all of LOF, GOF and DN mechanisms.

Variability btw carriers of the same variant is reported, and intrafamilial variability is reported (Döring (2021))
Created: 21 May 2021, 4:21 a.m. | Last Modified: 21 May 2021, 4:21 a.m.
Panel Version: 0.7652

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

Phenotypes
Developmental and epileptic encephalopathy 32, MIM#616366

Publications

Mode of pathogenicity
Other

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Review of 23 affected individuals in PMID 29050392: some variants are LoF and others GoF, and some genotype-phenotype correlations made. The main differences were (i) predominant focal (loss-of-function) versus generalized (gain-of-function) seizures and corresponding epileptic discharges with prominent sleep activation in most cases with loss-of-function mutations; (ii) more severe epilepsy, developmental problems and ataxia, and atrophy of the cerebellum or even the whole brain in about half of the patients with gain-of-function mutations; and (iii) most severe early-onset phenotypes, occasionally with neonatal onset epilepsy and developmental impairment, as well as generalised and focal seizures and EEG abnormalities for patients with gain- and loss-of-function mutations.
Created: 12 Sep 2020, 4:26 a.m. | Last Modified: 12 Sep 2020, 4:26 a.m.
Panel Version: 0.4380

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Early infantile encephalopathy 32, MIM#616366

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Early infantile encephalopathy 32, MIM#616366
OMIM
176262
Clinvar variants
Variants in KCNA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kcna2 has been classified as Green List (High Evidence).

12 Sep 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KCNA2 were changed from to Early infantile encephalopathy 32, MIM#616366

12 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KCNA2 were set to

12 Sep 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KCNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KCNA2 was added gene: KCNA2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KCNA2 was set to Unknown