Renal tubulopathies
Gene: SLC2A9
Comment on list classification: Changing rating from red to green as > 3 cases reported.Created: 5 Sep 2019, 9:46 p.m. | Last Modified: 5 Sep 2019, 9:46 p.m.
Panel Version: 1.163
Associated with Hypouricemia, renal, 2 #612076 in OMIM.
More than 3 cases reported in OMIM (PMIDs: 19026395, 19926891, 21810765). Some patients heterozygous, some homozygous for variants in SLC2A9. In one family the heterozygous parents of the sibs were clinically asymptomatic.Created: 2 Sep 2019, 10:09 p.m. | Last Modified: 2 Sep 2019, 10:09 p.m.
Panel Version: 1.82
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: SLC2A9; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none providedCreated: 3 Feb 2019, 11:32 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypouricemia, renal, 2, MIM 612076; {Uric acid concentration, serum, QTL 2} MIM 612076
Variants in this GENE are reported as part of current diagnostic practice
Gene: slc2a9 has been classified as Green List (High Evidence).
Publications for gene: SLC2A9 were set to
Mode of inheritance for gene: SLC2A9 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A9 were changed from to Hypouricemia, renal, 2, 612076; {Uric acid concentration, serum, QTL 2}, 612076
gene: SLC2A9 was added gene: SLC2A9 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: SLC2A9 was set to