CASR

calcium sensing receptor
OMIM: 601199, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 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 1.16

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 2.9
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 2.14
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 2.24
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 2.119
    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 1.717
    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 2.36
    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 2.27
    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 2.422
    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 3.1277
    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 1.84

    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