This Panel is marked as Retired
Epileptic encephalopathy
Gene: SLC6A19
SLC6A19 (solute carrier family 6 member 19)
EnsemblGeneIds (GRCh38): ENSG00000174358
EnsemblGeneIds (GRCh37): ENSG00000174358
OMIM: 608893, Gene2Phenotype
SLC6A19 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000174358
EnsemblGeneIds (GRCh37): ENSG00000174358
OMIM: 608893, Gene2Phenotype
SLC6A19 is in 7 panels
1 review
Sarah Leigh (Genomics England Curator)
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 234500Created: 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