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Calcium-sensing receptor phenotypes

Gene: CASR

Green List (high evidence)
CASR (calcium sensing receptor)
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 13 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #145980, #239200 & #601198) and these OMIM records were last accessed on 17 December 2025.
Created: 17 Dec 2025, 10:29 p.m. | Last Modified: 17 Dec 2025, 10:29 p.m.
Panel Version: 1.2
CASR has been added to the panel for R319 Calcium-sensing receptor phenotypes with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 30 Jun 2023, 9:41 a.m. | Last Modified: 30 Jun 2023, 9:41 a.m.
Panel Version: 0.1

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 30 Jun 2023, 9:41 a.m.
Last Modified: 30 Jun 2023, 9:41 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Hypocalciuric hypercalcemia, type I, OMIM:145980
  • Hyperparathyroidism, neonatal, OMIM:239200
  • Hypocalcemia, autosomal dominant, OMIM:601198
  • Hypocalcemia, autosomal dominant, with Bartter syndrome, OMIM:601198
  • familial hypocalciuric hypercalcemia 1, MONDO:0007791
  • neonatal severe primary hyperparathyroidism, MONDO:0009397
  • autosomal dominant hypocalcemia 1, MONDO:0011013
OMIM
601199
Clinvar variants
Variants in CASR
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CASR were changed from to Hypocalciuric hypercalcemia, type I, OMIM:145980; Hyperparathyroidism, neonatal, OMIM:239200; Hypocalcemia, autosomal dominant, OMIM:601198; Hypocalcemia, autosomal dominant, with Bartter syndrome, OMIM:601198; familial hypocalciuric hypercalcemia 1, MONDO:0007791; neonatal severe primary hyperparathyroidism, MONDO:0009397; autosomal dominant hypocalcemia 1, MONDO:0011013

29 Jun 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CASR was added gene: CASR was added to Calcium-sensing receptor phenotypes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal