Nephrocalcinosis or nephrolithiasis
Gene: CASRComment on mode of pathogenicity: Expert review states that Hypocalcemia can be caused by a mutation that inappropriately activates the receptorCreated: 6 Nov 2019, 5:05 p.m. | Last Modified: 6 Nov 2019, 5:05 p.m.
Panel Version: 1.46
Hypocalcemia can be caused by a mutation that inappropriately activates the receptor.
Phenotypes vary and may include stones/nephrocalcinosisCreated: 29 Oct 2015, 8:44 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypercalaemic hypocalciuria; neonatal severe hyperpara; hypcalcaemic hypercalciuria
Mode of pathogenicity
Other
The sources for mode of inheritance differ. The expert list gives the mode of inheritance as both autosomal dominant and autosomal recessive, whereas from Illumina mode of inheritance for is dominant (for Familial Hypocalciuric Hypercalcemia and Hypocalcemia). This is represented here as "BOTH monoallelic and biallelic, autosomal or pseudoautosomal".Created: 8 Jul 2015, 1:55 p.m.
Mode of pathogenicity for gene: CASR was changed from to Other
This gene has been classified as Green List (High Evidence).
Publications for CASR were set to
CASR was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Eligibility statement prior genetic testing
CASR was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert
CASR was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen
CASR was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: UKGTN
CASR was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Illumina TruGenome Clinical Sequencing Services