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Mitochondrial disease

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

Manny Jacobs (Victorian Clinical Genetics Services)

Green List (high evidence)

Myasthenic syndrome, congenital, 23, presynaptic - less severe - MIM#618197
Both caused by biallelic variants
26870663 - 1 family
31527857 - 3 families
31808147 - 3 families

Combined D-2- and L-2-hydroxyglutaric aciduria - more severe - 615182
23561848 - 12 affected unrelated individuals
23393310 - 1 Israeli family (presented with D2L2AD - but reported in Chaouch et al. (2014) with myasthenic features).

It is postulated that variants reported causing d/l-2-HGA are more severe and cause a significant reduction of protein activity,4 while variants causative of CMS23 are hypomorphic.
Created: 3 May 2022, 7:22 a.m. | Last Modified: 3 May 2022, 7:22 a.m.
Panel Version: 0.13613

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596

Publications

Created: 3 May 2022, 7:22 a.m.
Last Modified: 3 May 2022, 7:22 a.m.
Panel version: Imported from Mendeliome panel version 0.13613

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC25A1 was added gene: SLC25A1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC25A1 was set to Unknown