Early onset or syndromic epilepsy
Gene: SLC6A1
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
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
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
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.
Publications for gene: SLC6A1 were set to 25865495; Carvill et al (2015) Am J Hum Genet 96(5): 808-15
Phenotypes for gene: SLC6A1 were changed from Myoclonic-atonic epilepsy, 616421 to Myoclonic-atonic epilepsy, OMIM:616421
Phenotypes for gene: SLC6A1 were changed from to Myoclonic-atonic epilepsy, 616421
Publications for gene: SLC6A1 were set to Carvill et al (2015) Am J Hum Genet 96(5): 808-15
Source Wessex and West Midlands GLH was added to SLC6A1.
Source NHS GMS was added to SLC6A1.
Ellen McDonagh: Comment on mode of inheritance
Victorian Clinical Genetics Services was added to SLC6A1. Panel: Genetic Epilepsy Syndromes
SLC6A1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert Review
SLC6A1 was created by Sarah Leigh