Renal tubulopathies
Gene: SLC34A3
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 providedCreated: 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
Publications for gene: SLC34A3 were set to
Gene: slc34a3 has been classified as Red List (Low Evidence).
Mode of inheritance for gene: SLC34A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were changed from to Hypophosphatemic rickets with hypercalciuria, 241530
gene: SLC34A3 was added gene: SLC34A3 was added to Renal tubulopathies. Sources: NHS GMS Mode of inheritance for gene: SLC34A3 was set to