Inborn errors of metabolismGene: SLC25A1
Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 6 variants identified in at least 4 unrelated cases.
Created: 25 Apr 2019, 1:48 p.m.
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
Combined D-2- and L-2-hydroxyglutaric aciduria, MIM#615182
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to SLC25A1. Source London North GLH was added to SLC25A1.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; Disorders of mitochondrial protein transport for gene: SLC25A1
gene: SLC25A1 was added gene: SLC25A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC25A1 were set to 27604308 Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism)