Brain Calcification
Gene: CASREnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Additional individuals reported in older papers.Created: 28 Mar 2023, 5:19 a.m. | Last Modified: 28 Mar 2023, 5:19 a.m.
Panel Version: 1.32
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypocalcemia, autosomal dominant, MIM# 601198
Publications
Yetong Chen (University of Melbourne)
PMID 32775520 reports co-segregation of a CASR variant and intracranial calcification found in 2 patients from the same family.
PMID 35402765 reports a patient with a CASR variant who developed multiple intracerebral calcifications. A pedigree including the patient and her parents can be found in the paper, but CASR genetic testing was not done on the proband's parents so it could not confirm whether the variant is de novo.
Sources: Expert listCreated: 28 Mar 2023, 3:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hypocalcemia, autosomal dominant; HYPOC1; Hypercalciuric Hypocalcemia; Hypocalcemia, familial
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hypocalcemia, autosomal dominant, MIM# 601198
- 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).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: CASR were changed from Hypocalcemia, autosomal dominant; HYPOC1; Hypercalciuric Hypocalcemia; Hypocalcemia, familial to Hypocalcemia, autosomal dominant, MIM# 601198
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: CASR were set to 32775520; 35402765
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
Yetong Chen (University of Melbourne)gene: CASR was added gene: CASR was added to Brain Calcification. Sources: Expert list Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CASR were set to 32775520; 35402765 Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant; HYPOC1; Hypercalciuric Hypocalcemia; Hypocalcemia, familial Review for gene: CASR was set to RED