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  3. SLC13A3
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Leukodystrophy - paediatric

Gene: SLC13A3

Green List (high evidence)
SLC13A3 (solute carrier family 13 member 3)
EnsemblGeneIds (GRCh38): ENSG00000158296
EnsemblGeneIds (GRCh37): ENSG00000158296
OMIM: 606411, Gene2Phenotype
SLC13A3 is in 4 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Seven patients reported with biallelic SLC13A3 variants, causing acute reversible leukoencephalopathy and α-ketoglutarate accumulation. Patients presented with acute neurological deterioration after a febrile illness. 5/7 with ataxia, 4/7 had seizures, 1/7 developmental delay.
Sources: Expert list
Created: 4 Jan 2024, 2:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)

Publications

Created: 4 Jan 2024, 2:19 a.m.

Panel version: 0.298

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)
OMIM
606411
Clinvar variants
Variants in SLC13A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc13a3 has been classified as Green List (High Evidence).

4 Jan 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC13A3 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)

4 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc13a3 has been classified as Green List (High Evidence).

4 Jan 2024, Gel status: 0

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

Daniel Flanagan (Victorian Clinical Genetics Services)

gene: SLC13A3 was added gene: SLC13A3 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: SLC13A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A3 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID) Phenotypes for gene: SLC13A3 were set to Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Review for gene: SLC13A3 was set to GREEN