1. Panels
  2. Paroxysmal Dyskinesia
  3. CASR
STRs in panel
Prev Next
Regions in panel
Prev Next

Paroxysmal Dyskinesia

Gene: CASR

Green List (high evidence)
CASR (calcium sensing receptor)
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 16 panels

1 review

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 28 Jul 2023, 7:28 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification

Publications

Created: 28 Jul 2023, 7:28 a.m.

Panel version: 0.109

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypocalciuric hypercalcemia, type I, MIM# 145980
  • Hypocalciuric Hypercalcemic
  • Hyperparathyroidism
  • paroxysmal dyskinesia
  • brain calcification
OMIM
601199
Clinvar variants
Variants in CASR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: casr has been classified as Green List (High Evidence).

31 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CASR were changed from Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification to Hypocalciuric hypercalcemia, type I, MIM# 145980; Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification

31 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: casr has been classified as Green List (High Evidence).

28 Jul 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: CASR was added gene: CASR was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CASR were set to 34913197 Phenotypes for gene: CASR were set to Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification Review for gene: CASR was set to GREEN