Possible mitochondrial disorder - nuclear genes
Gene: SLC25A1EnsemblGeneIds (GRCh38): ENSG00000100075
EnsemblGeneIds (GRCh37): ENSG00000100075
OMIM: 190315, Gene2Phenotype
SLC25A1 is in 12 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; ?Myasthenic syndrome, congenital, 23, presynaptic, 618197
Zornitza Stark (Australian Genomics)
12 individuals with bi-allelic variants described in the initial paper; gene encodes a mitochondrial enzyme.Created: 31 Aug 2018, 8:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined D-2- and L-2-hydroxyglutaric aciduria, MIM#615182
Publications
Variants in this GENE are reported as part of current diagnostic practice
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- ?Myasthenic syndrome, congenital, 23, presynaptic, 618197
- Combined D-2- and L-2-hydroxyglutaric aciduria, 615182
- OMIM
- 190315
- Clinvar variants
- Variants in SLC25A1
- Penetrance
- None
- Panels with this gene
-
- Congenital myaesthenic syndrome
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Possible mitochondrial disorder - nuclear genes
- Undiagnosed metabolic disorders
- Intellectual disability
- DDG2P
- Inherited white matter disorders
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Fetal anomalies
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: SLC25A1 was added gene: SLC25A1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A1 were set to ?Myasthenic syndrome, congenital, 23, presynaptic, 618197; Combined D-2- and L-2-hydroxyglutaric aciduria, 615182