Genetic epilepsy syndromesGene: SLC6A8
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
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
Cerebral creatine deficiency syndrome 1, 300352
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.
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)
Cerebral creatine deficiency syndrome 1, MIM#300352
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to SLC6A8.
Source NHS GMS was added to SLC6A8.
Zornitza Stark: Seizures are part of the pheno
Gene: slc6a8 has been classified as Green List (High Evidence).
Gene: slc6a8 has been classified as Amber List (Moderate Evidence).
Publications for gene: SLC6A8 were set to
Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1 300352
Mode of inheritance for gene: SLC6A8 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Expert Review Amber was added to SLC6A8. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to SLC6A8. Panel: Genetic Epilepsy Syndromes
SLC6A8 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
SLC6A8 was created by Sarah Leigh