Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Fetal anomalies

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

Seb Lunke (Victorian Clinical Genetics Services)

Green List (high evidence)

Recessive sialic acid storage disorder with wide phenotypic spectrum, from severe infantile form with Intrauterine hydrops, dysmorphic features and hypomyelination, to a slowly progressive adult form. Severity correlated with level of free sialic acid (N-acetylneuraminic acid, Neu5Ac) in urine. Adult form largely described with finish founder variant, p.Arg39Cys, but other variants have been described.
Created: 3 Jan 2022, 11:10 p.m. | Last Modified: 3 Jan 2022, 11:10 p.m.
Panel Version: 0.1754

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sialic acid storage disorder, infantile, MIM#269920; MONDO:0010027

Publications

History Filter Activity

3 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

3 Jan 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: SLC17A5 were changed from SALLA DISEASE; INFANTILE SIALIC ACID STORAGE DISORDER to Sialic acid storage disorder, infantile, MIM#269920; MONDO:0010027

3 Jan 2022, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: SLC17A5 were set to

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC17A5 were set to SALLA DISEASE; INFANTILE SIALIC ACID STORAGE DISORDER