Renal tubulopathies

Gene: SLC34A3

Green List (high evidence)

Comment on list classification: After consultation with the Genomics England rare disease clinical team leaving this gene red on this panel as hypophosphatemia is covered by the 'R154 Hypophosphataemia or rickets' panel.

Created: 5 Sep 2019, 9:52 p.m. | Last Modified: 5 Sep 2019, 9:52 p.m.

Panel Version: 1.168

Associated with Hypophosphatemic rickets with hypercalciuria #241530 in OMIM.

10 cases reported in OMIM (PMIDs: 16358214, 16358215, 16849419).

Created: 2 Sep 2019, 9:42 p.m. | Last Modified: 2 Sep 2019, 9:42 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: SLC34A3; 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
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypophosphatemic rickets with hypercalciuria, MM 241530

Variants in this GENE are reported as part of current diagnostic practice