Parathyroid Tumour
Gene: CASREnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 16 panels
1 review
Chirag Patel (Genetic Health Queensland)
ClinGen definitive. Parathyroid neoplasm reported in condition.
Sources: Expert list, Expert ReviewCreated: 12 Sep 2024, 5:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tumor of parathyroid gland, MONDO:0021360; Familial hypocalciuric hypercalcemia 1, MONDO:0007791; Hypocalciuric hypercalcemia, type I, MIM#145980; Hypocalcemia, autosomal dominant, MIM#601198
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert Review
- Expert list
- Phenotypes
-
- Tumor of parathyroid gland, MONDO:0021360
- Familial hypocalciuric hypercalcemia 1, MONDO:0007791
- Hypocalciuric hypercalcemia, type I, MIM#145980
- Hypocalcemia, autosomal dominant, MIM#601198
- OMIM
- 601199
- Clinvar variants
- Variants in CASR
- Penetrance
- None
- 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
Chirag Patel (Genetic Health Queensland)Gene: casr has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: CASR was added gene: CASR was added to Parathyroid Neoplasm. Sources: Expert list,Expert Review Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CASR were set to Tumor of parathyroid gland, MONDO:0021360; Familial hypocalciuric hypercalcemia 1, MONDO:0007791; Hypocalciuric hypercalcemia, type I, MIM#145980; Hypocalcemia, autosomal dominant, MIM#601198 Review for gene: CASR was set to GREEN