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  3. CASR
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Renal Tubulopathies and related 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 Hypomagnesaemia panel version Imported from Mendeliome panel version 0.12501

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Phenotypic overlap with Bartter, individuals identified as part of Bartter-like cohorts.
Created: 8 Oct 2020, 9:53 a.m. | Last Modified: 8 Oct 2020, 9:53 a.m.
Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypocalciuric hypercalcemia, type I, MIM# 145980

Publications

Created: 8 Oct 2020, 9:53 a.m.
Last Modified: 8 Oct 2020, 9:53 a.m.
Panel version: Imported from Bartter Syndrome panel version 0.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198
  • Hypocalciuric hypercalcemia, type I, MIM# 145980
OMIM
601199
Clinvar variants
Variants in CASR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CASR was added gene: CASR was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CASR were set to 30760291; 8813042; 27234911 Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198; Hypocalciuric hypercalcemia, type I, MIM# 145980