Early onset or syndromic epilepsy

Gene: SLC6A8

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)

XLR Cerebellar creatine defic syndrome 1 - characterised by mental retardation, severe speech delay, behavioural abnormalities and seizures. Bizzi et al, 2002 - child with severe neurological disabilities incl seizures. Hahn et al, 2002 - 5 male sin a sibship of 10 with MR and seizures. Schiaffino et al, 2005 - 21 month old boy - EEG showed slow diffuse hypersynchronisms with abnormal multifocal spikes. Battini et al, 2007 - 9.5 year old Italian boy - seizures reported. Comeaux et al, 2013 - 22 patients with confirmed deleterious mutations in SLC6A8 gene who had clinical information - 27% had seizures. Van de Kamp et al, 2013 - retrospective analysis from 85 families - many previoulsy reported - 59% had seizures.

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

Panel Version: 1.188

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Cerebral creatine deficiency syndrome 1, 300352

Publications

• 11898126
• 26951207

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least four variants reported
in at least four unrelated male cases in which seizures are a phenotypic feature.

Created: 3 Dec 2018, 2:38 p.m.

Green List (high evidence)

Seizures are part of the phenotype.

Created: 21 Aug 2018, 11:15 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Cerebral creatine deficiency syndrome 1, MIM#300352

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

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)