This Panel is marked as Retired
Epileptic encephalopathy
Gene: SLC25A1
SLC25A1 (solute carrier family 25 member 1)
EnsemblGeneIds (GRCh38): ENSG00000100075
EnsemblGeneIds (GRCh37): ENSG00000100075
OMIM: 190315, Gene2Phenotype
SLC25A1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000100075
EnsemblGeneIds (GRCh37): ENSG00000100075
OMIM: 190315, Gene2Phenotype
SLC25A1 is in 12 panels
1 review
Sarah Leigh (Genomics England Curator)
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel and the views of clinical expert, Dr Arianna Tucci, UCL.
Created: 20 Mar 2017, 11:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined D-2- and L-2-hydroxyglutaric aciduria 615182
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Combined D-2- and L-2-hydroxyglutaric aciduria 615182
- OMIM
- 190315
- Clinvar variants
- Variants in SLC25A1
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Congenital myaesthenic syndrome
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
History Filter Activity
20 Mar 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).
20 Mar 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)SLC25A1 was added to Epileptic encephalopathypanel. Sources: Expert Review
20 Mar 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SLC25A1 was created by sleigh