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  3. SLC13A5
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Leukodystrophy - paediatric

Gene: SLC13A5

Amber List (moderate evidence)
SLC13A5 (solute carrier family 13 member 5)
EnsemblGeneIds (GRCh38): ENSG00000141485
EnsemblGeneIds (GRCh37): ENSG00000141485
OMIM: 608305, Gene2Phenotype
SLC13A5 is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Six out of seven infants with punctate white matter lesions, which were no longer visible at the age of 6 months.
Sources: Expert list
Created: 19 Jan 2020, 7:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 25 615905

Publications

Created: 19 Jan 2020, 7:11 a.m.

Panel version: 0.40

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 25 615905
OMIM
608305
Clinvar variants
Variants in SLC13A5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: slc13a5 has been classified as Amber List (Moderate Evidence).

19 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC13A5 was added gene: SLC13A5 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A5 were set to 27913086 Phenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25 615905 Review for gene: SLC13A5 was set to AMBER