Early onset or syndromic epilepsy

Gene: SLC6A1

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 myoclonic-atonic epilepsy - onset of absence and myoclonic seizures in early childhood. Carvill et al, 2015 - 8 patients including a mother and daughter with early onset myoclonic-atonic epilepsy following early dev delay. 6 diff het mutations identified in SLC6A1. I additional patient had a het del of 3p25 including part of the SLC6A1 gene. 4 of the mutations and the deletion occured de novo. The aff child and mother both had the variant, and 1 ofther childs unaff mother hadthe variant - however she was a somatic mosaic. Functional studies not performed. Johannesen et al, 2018, 24 SLC6A1 probands and 6 aff family members, and 4 previously published cases were included. 31/34 cases had epilepsy.

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
Myoclonic-atonic epilepsy, 616421

Publications

• 25865495

Green List (high evidence)

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

Publications

• Carvill et al (2015) Am J Hum Genet 96(5): 808-15

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

Publications

• Carvill et al (2015) Am J Hum Genet 96(5): 808-15

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

Publications

• Carvill et al (2015) Am J Hum Genet 96(5): 808-15

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

Publications

• Carvill et al (2015) Am J Hum Genet 96(5): 808-15

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

Comment on mode of inheritance: Confirmed on G2P and OMIM. Not on imprinted gene list.

Created: 29 Jan 2016, 2:25 p.m.