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Epileptic encephalopathy

Gene: SLC6A19

Green List (high evidence)

SLC6A19 (solute carrier family 6 member 19)
EnsemblGeneIds (GRCh38): ENSG00000174358
EnsemblGeneIds (GRCh37): ENSG00000174358
OMIM: 608893, Gene2Phenotype
SLC6A19 is in 7 panels

1 review

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 Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Literature
  • Expert Review
Phenotypes
  • Hartnup disorder 234500
OMIM
608893
Clinvar variants
Variants in SLC6A19
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Feb 2017, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

SLC6A19 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Literature,Expert Review

6 Feb 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SLC6A19 was created by sleigh