CASR

calcium sensing receptor
OMIM: 601199, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green CASR in Brain Calcification Level 2: Neurology and neurodevelopmental disorders Version 1.99 Component of the following Super Panels: Progressive Neurological Conditions	2 reviews	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	1 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 1.3512	1 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 1.8	1 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 1.6	1 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 1.29	2 reviews	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 0.346	1 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 0.144 Component of the following Super Panels: Dystonia_Superpanel Tremors_Superpanel	1 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
Green CASR in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperparathyroidism, neonatal, 239200 (3)
Red CASR in Fetal anomalies Version 1.465	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Phenotypes Hyperparathyroidism, neonatal, MIM# 239200
Green CASR in Prepair 1000+ Level 2: Screening Version 2.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hyperparathyroidism, neonatal MIM#239200
Green CASR in Familial hypoparathyroidism Level 3: Disorders of calcium homeostasis Level 2: Endocrine disorders Version 1.7	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 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 1.22 Component of the following Super Panels: Kidneyome_SuperPanel	2 reviews	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 Level 2: Screening Version 0.20	0 reviews	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
Green CASR in Parathyroid Tumour Level 2: Cancer Predisposition Version 1.2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert list Phenotypes Tumor of parathyroid gland, MONDO:0021360 Familial hypocalciuric hypercalcemia 1, MONDO:0007791 Hypocalciuric hypercalcemia, type I, MIM#145980 Hypocalcemia, autosomal dominant, MIM#601198