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Genetic epilepsy syndromes

Gene: SLC13A5

Green List (high evidence)

SLC13A5 (solute carrier family 13 member 5)
EnsemblGeneIds (GRCh38): ENSG00000141485
EnsemblGeneIds (GRCh37): ENSG00000141485
OMIM: 608305, Gene2Phenotype
SLC13A5 is in 7 panels

7 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)

AR EIEE25. Thevenon et al, 2004 - 8 patients, 3 unrelated families - 1 family consanguineous and of Algerian origin. In 7 patients from 3 unrelated families identified a hom or compound het missense variant. No functional studies done. Hardies et al, 2015 - 8 patients from 4 unrelated families of European descent - 7 different biallelic variants identified, 5 missense, 2 truncating and 2 reported previously. In vitro functional expression studies in HEK293T cells showed that all mutant proteins lost citrate transport activity even though some missense mutations were correctly expressed at the plasma membrane. More variants idenitifed on HGMD Pro - including Schossig et al, 2017 - 10 indivdiuals from 5 families all with bialleleic SLC13A5 variants.
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
Epileptic encephalopathy, early infantile, 615905

Publications

Amy McTague (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Thevenon et al (2014) AJHG 95, 113_120

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

Natalie Trump (NHS - Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Thevenon et al (2014) AJHG 95, 113_120

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

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Thevenon et al (2014) AJHG 95, 113_120

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

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Thevenon et al (2014) AJHG 95, 113 120

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

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: All reviewers agree, and mode of inheritance and loss of function mechanism confirmed on G2P/OMIM.
Created: 29 Jan 2016, 2:51 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • NIHRBR-RD Consortium SPEED_v3.0_20170404
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review
Phenotypes
  • Epileptic encephalopathy, early infantile, 25
OMIM
608305
Clinvar variants
Variants in SLC13A5
Penetrance
None
Publications
  • Thevenon et al (2014) AJHG 95, 113 120
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 SLC13A5.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SLC13A5.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: Comment when marking as ready:

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to SLC13A5. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SLC13A5. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SLC13A5 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review,Expert Review Green

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

SLC13A5 was created by Sarah Leigh