This Panel is marked as Internal
Test MOI validation panel - do not edit
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
0 reviews
Details
- Sources
-
- Expert Review Green
- Phenotypes
-
- Allowed values MOI test - gene with no MOI set
- OMIM
- 190315
- Clinvar variants
- Variants in SLC25A1
- Penetrance
- None
- 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 Oct 2020, Gel status: 3
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: SLC25A1 were changed from Test - gene with no MOI set to Allowed values MOI test - gene with no MOI set
19 Aug 2020, Gel status: 3
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: slc25a1 has been classified as Green List (High Evidence).
19 Aug 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: SLC25A1 was added gene: SLC25A1 was added to TEST mode of inheritance validation panel. Sources: Expert Review Red Mode of inheritance for gene: SLC25A1 was set to Phenotypes for gene: SLC25A1 were set to Test - gene with no MOI set