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Prepair 1000+

Gene: SLC25A1

Green List (high evidence)

SLC25A1 (solute carrier family 25 member 1)
EnsemblGeneIds (GRCh38): ENSG00000100075
EnsemblGeneIds (GRCh37): ENSG00000100075
OMIM: 190315, Gene2Phenotype
SLC25A1 is in 13 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Two different phenotypes but both spectrums of mitochondrial disorder. Both multi-system. Combined D-2- and L-2-hydroxyglutaric aciduria is more severe, infantile onset, lethal.
Created: 7 Feb 2025, 5:26 a.m. | Last Modified: 7 Feb 2025, 5:26 a.m.
Panel Version: 1.1460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3); Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
  • Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3)
OMIM
190315
Clinvar variants
Variants in SLC25A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc25a1 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC25A1 were changed from Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3); Myasthenic syndrome, congenital, 23, presynaptic, 618197 (3)

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC25A1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) for gene: SLC25A1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A1 was added gene: SLC25A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)