CASR

calcium sensing receptor
OMIM: 601199, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green CASR in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.96 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Hypocalcemia, autosomal dominant, MIM# 601198
Green CASR in Hypercalcaemia Level 2: Endocrine disorders Version 1.2	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypocalciuric hypercalcaemia, type I, MIM# 145980 Hyperparathyroidism, neonatal, MIM# 239200
Green CASR in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperparathyroidism, neonatal MIM#239200 Hypocalcemia, autosomal dominant MIM#601198 Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198 hypercalcemia, type I MIM#145980
Green CASR in Osteogenesis Imperfecta and Osteoporosis Level 2: Skeletal disorders Version 0.114	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Hyperparathyroidism, neonatal, MIM# 239200 severe hypercalcemia, bone demineralization, multiple fractures
Amber CASR in Pancreatitis Level 2: Gastroenterological disorders Version 1.5	review	Other	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Susceptibility to pancreatitis
Green CASR in Calcium and Phosphate disorders Level 2: Renal and urinary tract disorders; Endocrine disorders Version 1.24	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Phenotypes Hyperparathyroidism, neonatal MIM#239200 Hypocalcemia, autosomal dominant MIM#601198 Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198 hypercalcemia, type I MIM#145980
Green CASR in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green NHS GMS Emory Genetics Laboratory Phenotypes Hypocalcemia, autosomal dominant, with Bartter syndrome 601198 Hypocalcemia, autosomal dominant 601198 Hyperparathyroidism, neonatal 239200 Hypocalciuric hypercalcemia, type I 145980
Green CASR in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.131 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Tremors_Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypocalciuric hypercalcemia, type I, MIM# 145980 Hypocalciuric Hypercalcemic Hyperparathyroidism paroxysmal dyskinesia brain calcification
Red CASR in NCGC Version 0.2	review	Other	Sources NCGC Phenotypes NA
Green CASR in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperparathyroidism, neonatal, 239200 (3)
Red CASR in Fetal anomalies Version 1.255	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hyperparathyroidism, neonatal, MIM# 239200
Red CASR in Familial Generalised Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.14	review	Not set	Sources Expert Review Red GREP Phenotypes {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899
Green CASR in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperparathyroidism, neonatal, 239200 (3)
Green CASR in Familial hypoparathyroidism Level 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Version 1.3	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes autosomal dominant hypocalcemia 1 MONDO:0011013
Green CASR in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green BeginNGS Phenotypes Hypocalcemia, autosomal dominant MIM#601198 Hyperparathyroidism, neonatal MIM#239200 Tags treatable endocrine
Green CASR in Renal Tubulopathies and related disorders Level 2: Renal and urinary tract disorders Version 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198 Hypocalciuric hypercalcemia, type I, MIM# 145980
Green CASR in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes severe hypercalcemia, bone demineralization, multiple fractures Hyperparathyroidism, neonatal, MIM# 239200