Nephrocalcinosis or nephrolithiasis
Gene: SLC34A3The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 2:21 p.m. | Last Modified: 30 Jan 2023, 2:21 p.m.
Panel Version: 3.4
Comment on mode of inheritance: Leaving MOI as Biallelic for now but with recommendation for change to BOTH mono and bi-allelic at the next GMS review.Created: 2 Aug 2022, 11:12 p.m. | Last Modified: 2 Aug 2022, 11:12 p.m.
Panel Version: 2.33
Previous review listed as causative only with balletic variants. However numerous reports now show that most (not all) carriers of heterozygous variants also have hypercalciuria, nephrocalcinosis and increased risk of stones, albeit much lower than with balletic variants. An investigation in a cohort of patients with variants in SLC34A3 (PMID: 24700880) showed that the risk of nephrocalcinosis/nephrolithiasis was 46%, 16% and 6% in subjects with biallelic, monoallelic or no causative variants, respectively. Thus, in subjects with nephrocalcinosis, monoallelic variants should be considered causative.Created: 21 Jul 2022, 11:05 a.m. | Last Modified: 21 Jul 2022, 11:05 a.m.
Panel Version: 2.32
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
hypercalciuria; nephrocalcinosis, nephrolithiasis; hypophosphataemia
Publications
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HHRH; recent publication added nephrolithiasis.
Publications
Comment on mode of inheritance: PMID: 24700880: evidence that heterozygotes may also have an increased risk of renal calcifications compared to the general public?Created: 20 May 2016, 8:33 a.m.
Comment on list classification: Originally an amber gene. Promoted after expert review. Multiple examples in OMIM for association with hypophosphatemic rickets with hypercalciuria, hereditary, and a more recent cases for an association with nephrolithiasis, hereditary hypophosphatemia, and hypercalciuria.Created: 9 May 2016, 1:59 p.m.
Comment on mode of inheritance: Confirmed in expert review and on OMIM.Created: 9 May 2016, 1:46 p.m.
Mode of inheritance submitted from expert was AR (autosomal recessive).Created: 8 Jul 2015, 12:53 p.m.
Tag Q3_22_MOI was removed from gene: SLC34A3. Tag Q3_22_NHS_review was removed from gene: SLC34A3.
Source NHS GMS was added to SLC34A3. Mode of inheritance for gene SLC34A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Tag Q3_22_MOI tag was added to gene: SLC34A3. Tag Q3_22_NHS_review tag was added to gene: SLC34A3.
Phenotypes for gene: SLC34A3 were changed from Hypophosphatemic rickets with hypercalciuria, 241530; HHRH; recent publication added nephrolithiasis. to Hypophosphatemic rickets with hypercalciuria, OMIM:241530; HHRH; hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431
Publications for gene: SLC34A3 were set to 25296721; 26543054; 24924704; 24700880
Publications for gene: SLC34A3 were set to PMID: 25296721; 26543054; 24924704; 24700880
Mode of inheritance for gene: SLC34A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for SLC34A3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for SLC34A3 were set to PMID: 25296721; 26543054; 24924704; 24700880
Publications for SLC34A3 were set to PMID: 25296721; 26543054; 24924704
Publications for SLC34A3 were set to PMID: 25296721; 26543054
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria, 241530; HHRH; recent publication added nephrolithiasis.
Publications for SLC34A3 were set to PMID: 25296721
Mode of inheritance for SLC34A3 was changed to BIALLELIC, autosomal or pseudoautosomal
SLC34A3 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert
SLC34A3 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen
SLC34A3 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: UKGTN