CASR

calcium sensing receptor
OMIM: 601199, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Red CASR in Parathyroid Cancer Level 3: Breast and endocrine Level 2: Tumour syndromes Version 1.5	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 1.32	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services UKGTN Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Hypocalciuric hypercalcemia, type I, 145980
Green CASR in Familial hypoparathyroidism Level 2: Endocrinology Version 3.5 Latest signed off version: v3.0 (30 Apr 2025)	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 Level 2: Endocrinology Version 3.7 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 2: Renal Version 5.5 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	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 Level 2: Gastrohepatology Version 3.5 Latest signed off version: v3.0 (30 Nov 2022)	review	Not set	Sources NHS GMS EUROPAC Phenotypes Pancreatitis
Green CASR in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) 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 Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	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 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	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 2: Renal Version 5.11 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Unexplained young onset end-stage renal disease	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 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) 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 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) 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 Calcium-sensing receptor phenotypes Level 2: Endocrinology Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	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