Renal tubulopathies

Gene: SLC2A9

Green List (high evidence)

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 provided

Created: 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