Genomics England

CASR

calcium sensing receptor

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Calcium-sensing receptor phenotypes R-numbers: R319 Signed-off version 1.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes
Green in Familial hyperparathyroidism or hypocalciuric hypercalcaemia R-numbers: R151 Signed-off version 3.2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Hyperparathyroidism, neonatal, OMIM:239200, Hypocalcemia, autosomal dominant, OMIM:601198, Hypocalcemia, autosomal dominant, with Bartter syndrome, OMIM:601198, Hypocalciuric hypercalcemia, type I, OMIM:145980, Familial isolated hyperparathyroidism, FHH1
Green in Familial hypoparathyroidism R-numbers: R153 Signed-off version 2.14	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Hyperparathyroidism, neonatal, 239200, Hypocalcemia, autosomal dominant, with or without Bartter syndrome, 601198
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	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
Green in Nephrocalcinosis or nephrolithiasis Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R256 Signed-off version 4.14	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
Green in Osteogenesis imperfecta R-numbers: R102 Signed-off version 4.0	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
Green in Renal tubulopathies Component of the following Super Panels: - Unexplained young onset end-stage renal disease R-numbers: R198 Signed-off version 4.18	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Hypocalcemia, autosomal dominant, (with Bartter syndrome), 601198, Hypocalciuric hypercalcemia, type I, 145980, Hyperparathyroidism, neonatal, 239200
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	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