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Genetic epilepsy syndromes

Gene: SMS

Green List (high evidence)

SMS (spermine synthase)
EnsemblGeneIds (GRCh38): ENSG00000102172
EnsemblGeneIds (GRCh37): ENSG00000102172
OMIM: 300105, Gene2Phenotype
SMS is in 6 panels

8 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Sarah Leigh (Genomics England Curator)

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.

Zornitza Stark (Australian Genomics)

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

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert
Phenotypes
  • Mental retardation, X-linked, Snyder-Robinson type 309583
OMIM
300105
Clinvar variants
Variants in SMS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SMS.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SMS.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

12 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sms has been classified as Green List (High Evidence).

12 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: sms has been classified as Green List (High Evidence).

12 Nov 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SMS were set to

12 Nov 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SMS were changed from to Mental retardation, X-linked, Snyder-Robinson type 309583

12 Nov 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SMS was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SMS was added to Genetic Epilepsy Syndromes panel. Sources: Expert,Expert Review Red

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

SMS was created by Sarah Leigh