CASR

calcium sensing receptor
OMIM: 601199, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red CASR in Parathyroid Cancer Level 3: Breast and endocrine Level 2: Tumour syndromes Version 1.4	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 1.31	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Hypocalciuric hypercalcemia, type I, 145980
Green CASR in Familial hypoparathyroidism Level 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Version 2.15 Latest signed off version: v2.14 (1 May 2024)	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 or hypocalciuric hypercalcaemia Version 3.6 Latest signed off version: v3.2 (30 Nov 2022)	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, 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 CASR in Nephrocalcinosis or nephrolithiasis Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 4.13 Latest signed off version: v4.0 (22 Mar 2023) 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 3.4 Latest signed off version: v3.0 (30 Nov 2022)	review	Not set	Sources NHS GMS EUROPAC Phenotypes Pancreatitis
Green CASR in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.3 Latest signed off version: v5.0 (1 May 2024) 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
Green CASR in Unexplained young onset end-stage renal disease Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Renal superpanel - broad	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hypocalcemia (dominant) Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to, Familial Hypocalciuric Hypercalcemia (dominant) hypocalciuric hypercalcaemia Familial Hypocalciuric Hypercalcemia
Green CASR in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hypocalcemia, autosomal dominant, 601198 Hypocalciuric hypercalcemia, type I, 145980 Hyperparathyroidism, neonatal, 239200 Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198
Green CASR in Osteogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.5 Latest signed off version: v4.0 (22 Mar 2023)	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 4.17 Latest signed off version: v4.0 (22 Mar 2023) 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 Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 5.10 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	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 6.12 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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 1.184	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
Green CASR in Calcium-sensing receptor phenotypes Version 1.1 Latest signed off version: v1.0 (14 Sep 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS