Nephrocalcinosis or nephrolithiasis

Gene: CASR

Green List (high evidence)

CASR (calcium sensing receptor)
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 14 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Comment on mode of pathogenicity: Expert review states that Hypocalcemia can be caused by a mutation that inappropriately activates the receptor
Created: 6 Nov 2019, 5:05 p.m. | Last Modified: 6 Nov 2019, 5:05 p.m.
Panel Version: 1.46

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Hypocalcemia can be caused by a mutation that inappropriately activates the receptor.
Phenotypes vary and may include stones/nephrocalcinosis
Created: 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

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Familial Hypocalciuric Hypercalcemia
  • Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to,
  • Hypocalcemia (dominant)
  • Familial Hypocalciuric Hypercalcemia (dominant)
  • hypocalciuric hypercalcaemia
OMIM
601199
Clinvar variants
Variants in CASR
Penetrance
Complete
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

6 Nov 2019, Gel status: 3

Set mode of pathogenicity

Eleanor Williams (Genomics England Curator)

Mode of pathogenicity for gene: CASR was changed from to Other

9 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 May 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for CASR were set to

12 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

CASR was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Eligibility statement prior genetic testing

8 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

CASR was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

CASR was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CASR was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CASR was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Illumina TruGenome Clinical Sequencing Services