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Mendeliome

Gene: SLC22A12

Green List (high evidence)

SLC22A12 (solute carrier family 22 member 12)
EnsemblGeneIds (GRCh38): ENSG00000197891
EnsemblGeneIds (GRCh37): ENSG00000197891
OMIM: 607096, Gene2Phenotype
SLC22A12 is in 3 panels

1 review

Manny Jacobs (Victorian Clinical Genetics Services)

Green List (high evidence)

More than three unrelated families reported with renal hypouracaemia in the literature.
PMID 26821810 report that having 1 or 2 SLC22A12 variants reduce serum uric acid levels.
Created: 9 May 2022, 1:29 a.m. | Last Modified: 9 May 2022, 1:29 a.m.
Panel Version: 0.13949

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypouricemia, renal, MIM# 220150, MONDO:0020728

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypouricemia, renal, MIM# 220150, MONDO:0020728
OMIM
607096
Clinvar variants
Variants in SLC22A12
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc22a12 has been classified as Green List (High Evidence).

11 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC22A12 were changed from to Hypouricemia, renal, MIM# 220150, MONDO:0020728

11 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC22A12 were set to

11 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SLC22A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC22A12 was added gene: SLC22A12 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC22A12 was set to Unknown