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Ataxia - 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

2 reviews

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Overview of phenotypic features recently published by Huizing et al. Severity correlated with level of free sialic acid (N-acetylneuraminic acid, Neu5Ac) in urine.
Created: 3 Jan 2022, 11:13 p.m. | Last Modified: 3 Jan 2022, 11:13 p.m.
Panel Version: 0.10448

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Ataxia is a feature of this neurodegenerative disorder.
Created: 17 Apr 2020, 12:55 a.m. | Last Modified: 17 Apr 2020, 12:55 a.m.
Panel Version: 0.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sialic acid storage disorder, infantile, MIM# 269920

Publications

History Filter Activity

13 Sep 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC17A5 were set to

17 Apr 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).

17 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC17A5 were changed from Salla disease; Sialic acid storage disease, severe infantile type to Salla disease; Sialic acid storage disease, severe infantile type, MIM# 269920

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC17A5 was added gene: SLC17A5 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC17A5 were set to Salla disease; Sialic acid storage disease, severe infantile type