Early onset or syndromic epilepsy

Gene: SMS

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)

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

• 30237987

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.

Green List (high evidence)

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

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)