Early onset or syndromic epilepsy

Gene: SCN2A

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 EIEE11 & AD benign infantile familial seizures. Many reported cases and variants on HGMDPro.

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,613721; Seizures, benign familial infantile,607745

Publications

• 23935176
• 28256214

Green List (high evidence)

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

Phenotypes
Early Infantile Epileptic Encephalopathy, Autosomal Dominant; Seizures, benign familial infantile, 3

Publications

• Kamiya et al (2004) J of Neuro 24(11): 2690 _2698
• Heron et al (2002) Lancet 360: 851_852

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
Early Infantile Epileptic Encephalopathy, Autosomal Dominant; Seizures, benign familial infantile, 3

Publications

• Kamiya et al (2004) J of Neuro 24(11): 2690 _2698
• Heron et al (2002) Lancet 360: 851_852

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
Early Infantile Epileptic Encephalopathy, Autosomal Dominant; Seizures, benign familial infantile, 3

Publications

• Kamiya et al (2004) J of Neuro 24(11): 2690 _2698
• Heron et al (2002) Lancet 360: 851_852

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
Early Infantile Epileptic Encephalopathy, Autosomal Dominant; Seizures, benign familial infantile, 3

Publications

• Kamiya et al (2004) J of Neuro 24(11): 2690 2698
• Heron et al (2002) Lancet 360: 851 852

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

Comment on list classification: Insufficient data for this phenotype (with inherited variants)

Created: 8 May 2016, 7 p.m.

Comment when marking as ready: Confirmed DD gene and all 4 reviewers agree this should be green. Mode of inheritance and loss-of-function mechanism confirmed.

Created: 21 Jan 2016, 11:54 a.m.

Comment on mode of inheritance: Confirmed and not on imprinted gene list.

Created: 21 Jan 2016, 11:53 a.m.