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Severe Paediatric Disorders

Gene: CASR

Green List (high evidence)

CASR (calcium sensing receptor)
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 15 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: CASR; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hyperparathyroidism, neonatal, 239200 (3) | Hypocalcemia, autosomal dominant, 601198 (3) | Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3) | Hypocalciuric hypercalcemia, type I, 145980 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:16 p.m. | Last Modified: 20 Feb 2020, 5:16 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
601199
Clinvar variants
Variants in CASR
Penetrance
None
Publications
Panels with this gene