This Panel is marked as Retired
Familial Genetic Generalised Epilepsies
Gene: CASR
CASR (calcium sensing receptor)
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 13 panels
0 reviews
Details
- Sources
-
- 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}
- OMIM
- 601199
- Clinvar variants
- Variants in CASR
- Penetrance
- Complete
- Panels with this gene
-
- Calcium-sensing receptor phenotypes
- Nephrocalcinosis or nephrolithiasis
- Early onset or syndromic epilepsy
- Familial pulmonary fibrosis
- Renal tubulopathies
- Parathyroid Cancer
- Intellectual disability
- Fetal anomalies
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Skeletal dysplasia
- Osteogenesis imperfecta
- Familial hypoparathyroidism
- Pancreatitis
History Filter Activity
6 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)CASR was added to Familial generalised epilepsypanel. Sources: Radboud University Medical Center, Nijmegen