Early onset or syndromic epilepsy

Gene: GRIN2B

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AD EIEE 27. Lemke et al, 2014 - 3 unrelated patients with EIEE - 2 diff de novo het missense mutations. In vitro functional expression studies showed that both mutations occurred in the ion channel-forming loop and resulted in increased calcium permeability and a GOF. Platzer ert al, 2017 - 48 individuals with de novo GRIN2B variants - half had seizures - in vitro studies done on some not all variants.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epileptic encephalopathy, early infantile, 27,616139; Mental retardation 6,613970

Publications

• 20890276

Green List (high evidence)

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

Phenotypes
Mental retardation, autosomal dominant 6

Publications

• Endele et al (2010) Nature Genet 42(11): 1021-1028

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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

Phenotypes
Mental retardation, autosomal dominant 6

Publications

• Endele et al (2010) Nature Genet 42(11): 1021-1028

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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

Phenotypes
Mental retardation, autosomal dominant 6

Publications

• Endele et al (2010) Nature Genet 42(11): 1021-1028

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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

Phenotypes
Mental retardation, autosomal dominant 6

Publications

• Endele et al (2010) Nature Genet 42(11): 1021-1028

Variants in this GENE are reported as part of current diagnostic practice

Comment on phenotypes: Sources: reviewers, OMIM, G2P.

Created: 5 Jan 2016, 12:33 p.m.

Comment on mode of inheritance: Checked imprinted gene list, G2P, OMIM.

Created: 5 Jan 2016, 12:32 p.m.