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  3. SLC25A1
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Intellectual disability syndromic and non-syndromic

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 27 May 2024, 8:35 a.m.
Last Modified: 27 May 2024, 8:35 a.m.
Panel version: 0.5943

Alyson Lewis (Other)

Green List (high evidence)

Associated mainly with severe neurometabolic disease combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA) and Myasthenic syndrome, congenital, 23, presynaptic.

PMID: 31527857
Four unrelated families with mild Congenital myasthenic syndromes (CMS) and mild intellectual disability with the same homozygous SLC25A1:c.740G>A p.(Arg247Gln) missense variant.

PMID: 26870663
English siblings with a milder phenotype presenting primarily as a neuromuscular (NMJ) junction defect. They identified a novel homozygous missense mutation in the SLC25A1 gene. Based on the axonal outgrowth defects seen in SLC25A1 knockdown zebrafish, they hypothesize that the neuromuscular junction impairment may be related to pre-synaptic nerve terminal abnormalities.
Created: 21 May 2024, 8:14 a.m. | Last Modified: 21 May 2024, 8:14 a.m.
Panel Version: 0.5881

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Impaired intellectual development, mild; Learning disabilities; Delayed motor development

Publications

Created: 21 May 2024, 8:14 a.m.
Last Modified: 21 May 2024, 8:14 a.m.
Panel version: 0.5881

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072
  • Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596
OMIM
190315
Clinvar variants
Variants in SLC25A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 May 2024, 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).

27 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC25A1 were changed from to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596

27 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC25A1 were set to

27 May 2024, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SLC25A1 was set to Unknown