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  3. CASR
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Calcium and Phosphate disorders

Gene: CASR

Green List (high evidence)
CASR (calcium sensing receptor)
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 16 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Established association

GoF is the mechanism for Hypocalcemia
Created: 4 Apr 2022, 1:01 a.m. | Last Modified: 4 Apr 2022, 1:01 a.m.
Panel Version: 0.12501

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Hyperparathyroidism, neonatal MIM#239200; Hypocalcemia, autosomal dominant MIM#601198; Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198; hypercalcemia, type I MIM#145980

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 Apr 2022, 1:01 a.m.
Last Modified: 4 Apr 2022, 1:01 a.m.
Panel version: Imported from Mendeliome panel version 0.12501

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Please note some variants in CASR lead to hypocalcaemia.
Created: 5 Apr 2021, 9:52 a.m. | Last Modified: 5 Apr 2021, 9:52 a.m.
Panel Version: 0.19

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypocalciuric hypercalcaemia, type I, MIM# 145980; Hyperparathyroidism, neonatal, MIM# 239200

Publications

Created: 5 Apr 2021, 9:52 a.m.
Last Modified: 5 Apr 2021, 9:52 a.m.
Panel version: Imported from Hypercalcaemia panel version 0.19

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperparathyroidism, neonatal MIM#239200
  • Hypocalcemia, autosomal dominant MIM#601198
  • Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198
  • hypercalcemia, type I MIM#145980
OMIM
601199
Clinvar variants
Variants in CASR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: casr has been classified as Green List (High Evidence).

30 May 2023, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: CASR were changed from to Hyperparathyroidism, neonatal MIM#239200; Hypocalcemia, autosomal dominant MIM#601198; Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198; hypercalcemia, type I MIM#145980

30 May 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: CASR were set to

30 May 2023, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: CASR was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CASR was added gene: CASR was added to Abnormalities of renal calcium and phosphate metabolism_KidGen. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: CASR was set to Unknown