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Mendeliome

Gene: SLC17A3

Red List (low evidence)

SLC17A3 (solute carrier family 17 member 3)
EnsemblGeneIds (GRCh38): ENSG00000124564
EnsemblGeneIds (GRCh37): ENSG00000124564
OMIM: 611034, Gene2Phenotype
SLC17A3 is in 1 panel

1 review

Samantha Ayres (Victorian Clinical Genetics Services)

Red List (low evidence)

Encodes urate transporter - variants in SLC17A3 postulated to cause susceptibility to gout (multifactorial), and potentially affect uric acid concentration - which may be detected on lab tests, but not necessarily lead to disease.
Not included on any PanelApp England panels.
Created: 8 May 2022, 11:40 p.m. | Last Modified: 8 May 2022, 11:40 p.m.
Panel Version: 0.13930

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
[Uric acid concentration, serum, QTL4], MIM# 612671, {Gout susceptibility 4}, MIM#612671

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • [Uric acid concentration, serum, QTL4], MIM# 612671, {Gout susceptibility 4}, MIM#612671
OMIM
611034
Clinvar variants
Variants in SLC17A3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc17a3 has been classified as Red List (Low Evidence).

11 May 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC17A3 were changed from to [Uric acid concentration, serum, QTL4], MIM# 612671, {Gout susceptibility 4}, MIM#612671

11 May 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC17A3 were set to

11 May 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC17A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 May 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc17a3 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC17A3 was added gene: SLC17A3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC17A3 was set to Unknown