SLC25A1

solute carrier family 25 member 1
OMIM: 190315, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red SLC25A1 in White matter disorders and cerebral calcification - narrow panel


Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Global Cerebral Hypomyelination

Red SLC25A1 in Inherited white matter disorders

Level 3: White matter disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.71

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Global Cerebral Hypomyelination

Amber SLC25A1 in Congenital myaesthenic syndrome

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.70

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • ?Myasthenic syndrome, congenital, 23, presynaptic
  • 618197

Green SLC25A1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.411

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)
  • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182

Green SLC25A1 in Inborn errors of metabolism


Version 1.392

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182
  • Disorders of mitochondrial protein transport
  • Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)

Green SLC25A1 in Possible mitochondrial disorder - nuclear genes


Version 1.12

review 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

Green SLC25A1 in Genetic epilepsy syndromes

Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 1.405

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Expert Review
Phenotypes
  • Combined D-2- and L-2-hydroxyglutaric aciduria

Green SLC25A1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1098

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Combined D-2- and L-2-hydroxyglutaric aciduria 615182

Green SLC25A1 in Mitochondrial disorders

Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Disorders of mitochondrial protein transport
  • Combined D-2- and L-2-hydroxyglutaric aciduria, 615182