Inherited white matter disorders
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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Global Cerebral Hypomyelination
- OMIM
- 190315
- Clinvar variants
- Variants in SLC25A1
- Penetrance
- Complete
- Panels with this gene
-
- Congenital myaesthenic syndrome
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- White matter disorders and cerebral calcification - narrow panel
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
6 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
5 Apr 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)SLC25A1 was added to Inherited white matter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services
5 Apr 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SLC25A1 was created by ellenmcdonagh