CASR

calcium sensing receptor
OMIM: 601199, Gene2Phenotype

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Red CASR in Parathyroid Cancer Level 3: Breast and endocrine Level 2: Tumour syndromes Version 1.3	review	Not set	Sources Expert Review Red UKGTN Phenotypes Pituitary Cancer, Parathyroid and Hypercalcemia
Amber CASR in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.16	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Radboud University Medical Center, Nijmegen UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Phenotypes Hypocalciuric hypercalcemia, type I, 145980
Green CASR in Hypocalciuric hypercalcaemia Version 2.8 Latest signed off version: v2.2 (3 Mar 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Hypocalciuric hypercalcemia, type I, OMIM:145980
Green CASR in Familial hypoparathyroidism Level 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Version 2.5 Latest signed off version: v2.2 (25 Feb 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert list UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Hyperparathyroidism, neonatal, 239200 Hypocalcemia, autosomal dominant, with or without Bartter syndrome, 601198
Green CASR in Familial hyperparathyroidism Version 2.13 Latest signed off version: v2.3 (3 Mar 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Phenotypes Hyperparathyroidism, neonatal (239200) Hypocalcemia, autosomal dominant (601198) Familial isolated hyperparathyroidism FHH1
Green CASR in Nephrocalcinosis or nephrolithiasis Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 2.18 Latest signed off version: v2.2 (13 Feb 2020) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing Expert Radboud University Medical Center, Nijmegen UKGTN Illumina TruGenome Clinical Sequencing Services 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
Red CASR in Pancreatitis Version 2.10 Latest signed off version: v2.2 (3 Mar 2020)	review	Not set	Sources NHS GMS EUROPAC Phenotypes Pancreatitis
Green CASR in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 2.97 Latest signed off version: v2.2 (13 Feb 2020) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Emory Genetics Laboratory Phenotypes Hypocalcemia, autosomal dominant 601198 Hypocalciuric hypercalcemia, type I 145980 Hyperparathyroidism, neonatal 239200 Hypocalcemia, autosomal dominant, with Bartter syndrome 601198
Amber CASR in Fetal anomalies Version 1.649 Latest signed off version: v1.92 (21 Aug 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Hypocalcemia, autosomal dominant, 601198 Hypocalciuric hypercalcemia, type I, 145980 Hyperparathyroidism, neonatal, 239200 Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 Tags for-review
Green CASR in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 2.13 Latest signed off version: v2.2 (13 Feb 2020)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Emory Genetics Laboratory Phenotypes Osteogenesis Imperfecta and Decreased Bone Density skeletal dysplasias neonatal severe hyperparathyroidism 239200 severe hypercalcemia, bone demineralization, multiple fractures familial hypocalciuric hypercalcemia
Green CASR in Renal tubulopathies Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 2.25 Latest signed off version: v2.23 (16 Oct 2020) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypocalcemia, autosomal dominant, (with Bartter syndrome), 601198 Hypocalciuric hypercalcemia, type I, 145980 Hyperparathyroidism, neonatal, 239200
Red CASR in Genetic epilepsy syndromes Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 2.345 Latest signed off version: v2.2 (13 Feb 2020)	review	Not set	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Radboud University Medical Center, Nijmegen Phenotypes Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899Hypercalciuric hypercalcemia{Calcium, serum level of}
Amber CASR in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.1075 Latest signed off version: v3.2 (13 Feb 2020) Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hypocalciuric hypercalcemia, type I, 145980
Green CASR in Severe Paediatric Disorders Version 1.77	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Hyperparathyroidism, neonatal, 239200 Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 Hypocalciuric hypercalcemia, type I, 145980 Hypocalcemia, autosomal dominant, 601198