Transplant Co-Morbidity Superpanel
Gene: CASR
CASR (calcium sensing receptor)
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 16 panels
0 reviews
Details
- Mode of Inheritance
- 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
- OMIM
- 601199
- Clinvar variants
- Variants in CASR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paroxysmal Dyskinesia
- Pancreatitis
- Mackenzie's Mission_Reproductive Carrier Screening
- Calcium and Phosphate disorders
- Prepair 1000+
- Parathyroid Tumour
- Brain Calcification
- BabyScreen+ newborn screening
- Transplant Co-Morbidity Superpanel
- Skeletal dysplasia
- Fetal anomalies
- Osteogenesis Imperfecta and Osteoporosis
- Mendeliome
- Familial hypoparathyroidism
- Renal Tubulopathies and related disorders
- Hypercalcaemia
History Filter Activity
1 Aug 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CASR was added gene: CASR was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CASR were set to 22620673 Phenotypes for gene: CASR were set to severe hypercalcemia, bone demineralization, multiple fractures; Hyperparathyroidism, neonatal, MIM# 239200