Epileptic encephalopathyGene: SLC6A19
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
6 Feb 2017, 10:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Hartnup disorder 234500
This gene has been classified as Green List (High Evidence).
SLC6A19 was added to Epileptic encephalopathypanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Literature,Expert Review
SLC6A19 was created by sleigh