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  3. SLC17A5
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Leukodystrophy - paediatric

Gene: SLC17A5

Green List (high evidence)
SLC17A5 (solute carrier family 17 member 5)
EnsemblGeneIds (GRCh38): ENSG00000119899
EnsemblGeneIds (GRCh37): ENSG00000119899
OMIM: 604322, Gene2Phenotype
SLC17A5 is in 16 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

White matter abnormalities described in this metabolic disorder.
Sources: Expert list
Created: 21 Jun 2020, 5:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Salla disease 604369; Sialic acid storage disorder, infantile 269920

Publications

Created: 21 Jun 2020, 5:28 a.m.

Panel version: 0.152

History Filter Activity

21 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc17a5 has been classified as Green List (High Evidence).

21 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc17a5 has been classified as Green List (High Evidence).

21 Jun 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC17A5 was added gene: SLC17A5 was added to Leukodystrophy - paediatric. Sources: Expert list Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC17A5 were set to 16417876 Phenotypes for gene: SLC17A5 were set to Salla disease 604369; Sialic acid storage disorder, infantile 269920 Review for gene: SLC17A5 was set to GREEN