Nephrocalcinosis or nephrolithiasis
Gene: SLC34A1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Nephrolithiasis with osteoporosis and hypophosphatemia
Comment on list classification: Previously an amber gene. Promoted to green due to expert review, and case studies in OMIM and literature search.Created: 9 May 2016, 1:43 p.m.
Mode of inheritance submitted from expert was both AD (autosomal dominant) and AR (autosomal recessive). From the Illumina source it is recessive. This is represented here using the "BOTH monoallelic and biallelic, autosomal or pseudoautosomal" mode of inheritance option.Created: 8 Jul 2015, 1:58 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286; Hypophosphatemic Nephrolithiasis/Osteoporosis; Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive); Nephrolithiasis with osteoporosis and hypophosphatemia; Nephrolithiasis with osteoporosis and hypophosphatemia
This gene has been classified as Green List (High Evidence).
Publications for SLC34A1 were set to PMID: 26047794; 25050900; 12324554
This gene has been classified as Amber List (Moderate Evidence).
Publications for SLC34A1 were set to PMID: 26047794; 25050900;
Phenotypes for SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286; Hypophosphatemic Nephrolithiasis/Osteoporosis; Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive); Nephrolithiasis with osteoporosis and hypophosphatemia
Publications for SLC34A1 were set to
SLC34A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert
SLC34A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Illumina TruGenome Clinical Sequencing Services
SLC34A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen