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Prepair 1000+

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

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

Defective SLC17A5 leads to intra-lysosomal free sialic acid accumulation and enlarged ‘vacuolar’ lysosomes. Affected individuals secrete ~10-100x normal amounts of free unconjugated sialic acid in the urine and manifest a continuous phenotypic spectrum of clinical severity that correlates with the severity of SLC17A5 mutations and the amount of stored free sialic acid in lysosomes.

1. Sialic acid storage disorder, infantile (MIM#269920)
- Severe form of autosomal recessive sialic acid storage disease, >100x increased urine free sialic acid
- Intrauterine onset, early death (< 2 years)
- Mostly PTCs but also missense reported

2. Salla disease (MIM#604369)
- Mild, slowly progressive form with individuals living to adulthood due to residual enzyme activity
- Age of onset 6-12 months
- ~10x increased urine free sialic acid
- Associated with missense variants

The well-reported Finnish founder missense variant p.(Arg39Cys) causes more severe disease when compound het than when homozygous and has been shown to result in reduced activity (to 10% of WT) instead of the complete loss of activity that was observed in other variants associated with more severe disease.


Green for MIM#269920, have not included MIM#604369 in the phenotype as unsure if it is severe enough to be included.
Created: 13 Jan 2025, 11:02 p.m. | Last Modified: 13 Jan 2025, 11:02 p.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sialic acid storage disorder, infantile (MIM#269920)

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

16 Jan 2025, 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).

16 Jan 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC17A5 were changed from Sialic acid storage disorder, infantile, 269920 (3) to Sialic acid storage disorder, infantile (MIM#269920)

16 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC17A5 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Sialic acid storage disorder, infantile, 269920 (3) for gene: SLC17A5

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC17A5 was added gene: SLC17A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile, 269920 (3)