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Genetic epilepsy syndromes

Gene: SLC35A1

Amber List (moderate evidence)

SLC35A1 (solute carrier family 35 member A1)
EnsemblGeneIds (GRCh38): ENSG00000164414
EnsemblGeneIds (GRCh37): ENSG00000164414
OMIM: 605634, Gene2Phenotype
SLC35A1 is in 9 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Insufficient evidence. Limited number of variants reported and the phenotype association appears to be for congenital disorders of glycosylation, where seizures can be a feature (PMID 23873973, 28856833)
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation type IIf, 603585

Publications

Rebecca Foulger (Genomics England curator)

I don't know

As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Better tested through the metabolic panel. Demoted from Green to Amber.
Created: 25 Nov 2019, 9:08 p.m. | Last Modified: 25 Nov 2019, 9:08 p.m.
Panel Version: 1.458
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: Alison Callaway and John Taylor. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Removed watchlist tag after promotion of SLC35A1 to Green.
Created: 18 Feb 2019, 3:05 p.m.
Comment on list classification: Updated rating from Amber to Green following clinical agreement from Helen Brittain: Although there are some issues that further cases would help to address, e.g. the inconsistent phenotypic spectrum and the timing of delay in relation to seizures, a recent PMID:30115659 paper (Kauskot et al. 2018) provides a third SLC35A1 case with a seizure phenotype (the first two cases coming from PMID:23873973 and PMID:28856833) and therefore on balance there are sufficient cases to support causation.
Created: 18 Feb 2019, 3:04 p.m.
Re-reviewed following promotion of SLC35A1 to Green on the ID panel. In summary, there are 2 existing cases of seizures and SLC35A1 variants (a Turkish patient in PMID:23873973, and a German patient in PMID:28856833). There is a further paper linking SLC35A1 to a glycosylation disorder (PMID:15576474) but without an ID or epilepsy phenotype. A 2018 paper (PMID:30115659) now reports 2 siblings with a haematological phenotype. The authors say that the siblings' phenotypes included delayed psychomotor development, epilepsy, ataxia, microcephaly, choreiform movements, and macrothrombocytopenia, though no futher information is provided.
Created: 18 Feb 2019, 3 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this metabolic disorder.
Created: 21 Aug 2018, 9:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIf, MIM#603585

Publications

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

Sarah Leigh (Genomics England Curator)

I don't know

Gene originally listed on the Intellectual disability panel V2.42.
Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in 3 unrelated cases, however, epileptic seizures were only reported in two cases.
Created: 21 Jun 2018, 10:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type IIf 603585

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
  • NHS GMS
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type IIf, 603585
  • seizures
OMIM
605634
Clinvar variants
Variants in SLC35A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SLC35A1 were set to 23873973; 15576474; 28856833; 30115659

25 Nov 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: slc35a1 has been classified as Amber List (Moderate Evidence).

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SLC35A1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SLC35A1.

18 Feb 2019, Gel status: 3

Removed Tag

Rebecca Foulger (Genomics England curator)

Tag watchlist was removed from gene: SLC35A1.

18 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: slc35a1 has been classified as Green List (High Evidence).

18 Feb 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SLC35A1 were changed from Congenital disorder of glycosylation, type IIf 603585 to Congenital disorder of glycosylation, type IIf, 603585; seizures

18 Feb 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SLC35A1 were set to 23873973; 15576474; 28856833

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Gene originally listed on the

26 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: slc35a1 has been classified as Amber List (Moderate Evidence).

26 Sep 2018, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag watchlist tag was added to gene: SLC35A1.

21 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: slc35a1 has been classified as Amber List (Moderate Evidence).

21 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SLC35A1 was added to Genetic Epilepsy Syndromes panel. Sources: Literature

21 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

SLC35A1 was created by Sarah Leigh