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Genetic epilepsy syndromes

Gene: SLC6A19

Red List (low evidence)

SLC6A19 (solute carrier family 6 member 19)
EnsemblGeneIds (GRCh38): ENSG00000174358
EnsemblGeneIds (GRCh37): ENSG00000174358
OMIM: 608893, Gene2Phenotype
SLC6A19 is in 6 panels

3 reviews

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. Epilepsy is not a key feature. Demoted from Green to Red.
Created: 25 Nov 2019, 9:09 p.m. | Last Modified: 25 Nov 2019, 9:09 p.m.
Panel Version: 1.460
PMID:20399395 (Cheon et al 2010) report a Korean boy age 8 years and 5 months with Hartnup disorder. He had seizures, ADHD and mental retardation. Genetic analysis revealed novel compound het variants in SLC6A19: p.Thr596fsX73 and p.Ser303Leu.
Created: 21 Nov 2019, 4:52 p.m. | Last Modified: 21 Nov 2019, 4:52 p.m.
Panel Version: 1.423
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: Amber.
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)

I don't know

AR Hartnup disorder, AD hyperglycinuria and AR & DR digenic Iminoglycinuria. Hartnup disorder - seizures are mentioned as a feature in OMIM but can only see one listed case where the patient had epilepsy. Google search state variable features but not found any specific mentions of epilepsy/seizures. Has a variable phenotype as symptoms triggered by sunlight, fever, drugs or emotional/physical stress - symptoms occur sporadic and are due to a deficiency of the niacin derived enzyme co-factors. Dietary factors also influence presentation as a high protein diet is good (often asymptomatic). Can be diagnosed by a urine/blood tests. Don't add to panel.
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
Hartnup disorder,234500; Hyperglycinuria,138500; Iminoglycinuria, digenic,242600

Publications

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Seizures listed as a clinical feature of Hartnup disorder 234500, considered to be appropriate by Dr Arianna Tucci (Neurology, UCL). Associated with phenotypes in OMIM, not in G2P / DD. At least 6 variants reported in 8 cases of Hartnup disorder 234500
Created: 6 Feb 2017, 10:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hartnup disorder 234500

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • NHS GMS
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Expert Review
Phenotypes
  • Hartnup disorder, 234500
OMIM
608893
Clinvar variants
Variants in SLC6A19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: slc6a19 has been classified as Red List (Low Evidence).

21 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, 234500

21 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SLC6A19 were set to

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to SLC6A19.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to SLC6A19.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Seizures listed as a clinical

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

SLC6A19 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review,Literature,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

SLC6A19 was created by Sarah Leigh