Osteogenesis Imperfecta and Osteoporosis
Gene: CASREnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Severe neonatal presentations can be with multiple fractures.
Sources: Expert listCreated: 26 Jul 2020, 11:52 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Hyperparathyroidism, neonatal, MIM# 239200; severe hypercalcemia, bone demineralization, multiple fractures
Publications
Details
- Mode of Inheritance
- 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
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: casr has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: casr has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: CASR was added gene: CASR was added to Osteogenesis Imperfecta. Sources: 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 Hyperparathyroidism, neonatal, MIM# 239200; severe hypercalcemia, bone demineralization, multiple fractures Review for gene: CASR was set to GREEN