Early onset or syndromic epilepsy
Gene: SMS
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
Snyder-Robinson syndrome reports epilepsy findings within the first yr. XLR MR - Snyder-Robinson type. Snyder and Robinson 1969 & Arena et al 1992 & 1996 & Cason et al 2003 - 11 males in 4 generations affected - some had seizures (not sure how many). Becerr-Solano et al, 2009 - 2 adult brothers - no seizures reported, Zhang et al, 2013 - 4 males in 3 generations - prband and uncle found to have missense variant. No mention of seizures. Peron et al, 2013 - affected boy - had seizures. Peng et al, 2016 - functional work carried out on some variants associated with this syndrome. Doesn't appear to always be associated with 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
Mental retardation X-linked Snyder-Robinson type, 309583
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 3 variants reported in unrelated cases of Mental retardation, X-linked, Snyder-Robinson type 309583 manifesting seizures.Created: 12 Nov 2018, 1:09 p.m.
Seizures are part of the phenotype of this intellectual disability disorder.Created: 21 Aug 2018, 11:30 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, Snyder-Robinson type, MIM#309583
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to SMS.
Source NHS GMS was added to SMS.
Zornitza Stark: Seizures are part of the pheno
Gene: sms has been classified as Green List (High Evidence).
Gene: sms has been classified as Green List (High Evidence).
Publications for gene: SMS were set to
Phenotypes for gene: SMS were changed from to Mental retardation, X-linked, Snyder-Robinson type 309583
Mode of inheritance for gene: SMS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
SMS was added to Genetic Epilepsy Syndromes panel. Sources: Expert,Expert Review Red
SMS was created by Sarah Leigh