CASR

calcium sensing receptor
OMIM: 601199
PanelMode of inheritanceDetails
7 panels
R-numbers: R151
Signed-off version 2.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperparathyroidism, neonatal (239200), Hypocalcemia, autosomal dominant (601198), Familial isolated hyperparathyroidism, FHH1
R-numbers: R153
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hyperparathyroidism, neonatal, 239200, Hypocalcemia, autosomal dominant, with or without Bartter syndrome, 601198
R-numbers: R152
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hypocalciuric hypercalcemia, type I (145980)
R-numbers: R256
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
R-numbers: R102
Signed-off version 2.2
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, neonatal severe hyperparathyroidism 239200, severe hypercalcemia, bone demineralization, multiple fractures, familial hypocalciuric hypercalcemia
R-numbers: R198
Signed-off version 2.23
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypocalcemia, autosomal dominant, (with Bartter syndrome), 601198, Hypocalciuric hypercalcemia, type I, 145980, Hyperparathyroidism, neonatal, 239200
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hypocalcemia, autosomal dominant 601198, Hypocalciuric hypercalcemia, type I 145980, Hyperparathyroidism, neonatal 239200, Hypocalcemia, autosomal dominant, with Bartter syndrome 601198