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Genetic Epilepsy

Gene: CAMK2A

Green List (high evidence)
CAMK2A (calcium/calmodulin dependent protein kinase II alpha)
EnsemblGeneIds (GRCh38): ENSG00000070808
EnsemblGeneIds (GRCh37): ENSG00000070808
OMIM: 114078, Gene2Phenotype
CAMK2A is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Chia (2018): 2 hom sibs with a missense, carrier parents/sibs normal. Patients had ID and additional features of hypotonia, myoclonic seizures. Supported by functional work showing loss of function.

Isolated example of AR inheritance, all other reports are AD, mechanism may be different.

Rudolf (2020): 1 de novo missense patient with focal epilepsy of childhood, autism and ID Akita (2018): seizures reported in 3/5 patients with de novo variants. GOF through loss of autoinhibition-> constitutive activation.
Created: 8 Dec 2021, 11:20 p.m. | Last Modified: 8 Dec 2021, 11:20 p.m.
Panel Version: 0.10174

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798

Publications

Created: 8 Dec 2021, 11:20 p.m.
Last Modified: 8 Dec 2021, 11:20 p.m.
Panel version: Imported from Mendeliome panel version 0.10174

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Chia (2018): 2 hom sibs with a missense, carrier parents/sibs normal. Patients had ID and additional features of hypotonia, myoclonic seizures. Supported by functional work showing loss of function
Isolated example of AR inheritance, all other reports are AD

Rudolf (2020): 1 de novo missense patient with focal epilepsy of childhood, autism and ID

Akita (2018): seizures reported in 3/5 patients with de novo variants. GOF through loss of autoinhibition-> constitutive activation

Sources: Literature
Created: 21 Apr 2021, 6:34 a.m. | Last Modified: 21 Apr 2021, 6:34 a.m.
Panel Version: 0.1060
Chia (2018): 2 hom sibs with a missense, supported by functional work, carrier parents/sibs normal. Patients had ID and additional features of hypotonia, myoclonic seizures.
Isolated example of AR inheritance, all other reports are AD

Rudolf (2020): 1 de novo missense patient with focal epilepsy of childhood, autism and ID

Akita (2018): seizures reported in 3/5 patients with de novo variants
Sources: Literature
Created: 21 Apr 2021, 6:25 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
?Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798

Publications

Mode of pathogenicity
Other

Created: 21 Apr 2021, 6:25 a.m.

Panel version: 0.1060

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Mental retardation, autosomal recessive 63 MIM#618095
  • Mental retardation, autosomal dominant 53 MIM#617798
OMIM
114078
Clinvar variants
Variants in CAMK2A
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

21 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: camk2a has been classified as Green List (High Evidence).

21 Apr 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: CAMK2A was changed from None to Other

21 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: camk2a has been classified as Green List (High Evidence).

21 Apr 2021, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: CAMK2A was added gene: CAMK2A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: CAMK2A was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CAMK2A were set to PMID: 32600977; 29784083; 29560374 Phenotypes for gene: CAMK2A were set to ?Mental retardation, autosomal recessive 63 MIM#618095; Mental retardation, autosomal dominant 53 MIM#617798 Review for gene: CAMK2A was set to GREEN