Nephrocalcinosis or nephrolithiasis
Gene: SLC34A1EnsemblGeneIds (GRCh38): ENSG00000131183
EnsemblGeneIds (GRCh37): ENSG00000131183
OMIM: 182309, Gene2Phenotype
SLC34A1 is in 6 panels
2 reviews
Fiona Karet (Universit y of Cambridge)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Nephrolithiasis with osteoporosis and hypophosphatemia
Ellen McDonagh (Genomics England Curator)
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.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286
- Hypophosphatemic Nephrolithiasis/Osteoporosis
- Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive)
- Nephrolithiasis with osteoporosis and hypophosphatemia
- Nephrolithiasis with osteoporosis and hypophosphatemia
- OMIM
- 182309
- Clinvar variants
- Variants in SLC34A1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC34A1 were set to PMID: 26047794; 25050900; 12324554
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC34A1 were set to PMID: 26047794; 25050900;
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286; Hypophosphatemic Nephrolithiasis/Osteoporosis; Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive); Nephrolithiasis with osteoporosis and hypophosphatemia
Set publications
Ellen McDonagh (Genomics England Curator)Publications for SLC34A1 were set to
Added New Source
Eik Haraldsdottir (Genomics England)SLC34A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert
Added New Source
GEL ()SLC34A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()SLC34A1 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen