Renal tubulopathies

Gene: SLC34A1

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, 9:50 p.m. | Last Modified: 5 Sep 2019, 9:50 p.m.

Panel Version: 1.166

Associated with ?Fanconi renotubular syndrome 2 #613388, Hypercalcemia, infantile, 2 #616963 and
Nephrolithiasis/osteoporosis, hypophosphatemic, 1 #612286 in OMIM.

Gene also known as NPT2.

PMID: 12324554 - Prie et al 2002 - report 2 out of 20 patients with urolithiasis or osteoporosis and persistent idiopathic hypophosphatemia associated with a decrease in maximal renal phosphate resorption with heterozygous missense mutations in SLC34A1.

PMID: 20335586 - Magen et al 2010 - report an affected brother and sister from a consanguineous Arab family with Fanconi renotubular syndrome and a homozygous in-frame 21-bp duplication in SLC34A1.

PMID: 26047794 - Schlingmann et al 2016 - report biallelic SLC34A1 mutations in 16 patients from 15 families with infantile hypercalcemia-2

Created: 2 Sep 2019, 9:56 p.m. | Last Modified: 2 Sep 2019, 9:56 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: SLC34A1; 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; Other Comments: AR for ? FRS2 and infantile hypercalcemia type 2, AD for nephrolithiasis/osteoporosis

Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypercalcemia, infantile, 2, MIM 616963; Nephrolithiasis/osteoporosis, hypophosphatemic, 1, MIM 612286; ?Fanconi renotubular syndrome 2 MIM 613388

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