Gene Symbol:
CASR
HGNC:1514
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
3q13.33-q21.1
Filters:

ClinGen classifications

neonatal severe primary hyperparathyroidism
AR
07/20/2023
Evaluated
10/18/2023
Submitted
familial hypocalciuric hypercalcemia 1
AD
07/20/2023
Evaluated
10/18/2023
Submitted
autosomal dominant hypocalcemia 1
AD
07/20/2023
Evaluated
10/18/2023
Submitted

Genomics England PanelApp classifications

familial hypocalciuric hypercalcemia 1
Submitted as: OMIM:145980
AD
03/04/2020
Evaluated
03/31/2021
Submitted

Illumina classifications

autosomal dominant hypocalcemia 1
AD
08/28/2018
Evaluated
10/15/2020
Submitted
familial hypocalciuric hypercalcemia 1
Submitted as: OMIM:145980
AD
12/08/2021
Evaluated
09/14/2023
Submitted

Invitae classifications

epilepsy, idiopathic generalized, susceptibility to, 8
Submitted as: OMIM:612899
AD
09/04/2017
Evaluated
11/30/2023
Submitted
familial hypocalciuric hypercalcemia 1
Submitted as: OMIM:145980
AD
07/11/2022
Evaluated
11/30/2023
Submitted
neonatal severe primary hyperparathyroidism
Submitted as: OMIM:239200
AD
09/21/2023
Evaluated
11/30/2023
Submitted
autosomal dominant hypocalcemia 1
Submitted as: OMIM:601198
AD
09/02/2022
Evaluated
11/30/2023
Submitted
neonatal severe primary hyperparathyroidism
Submitted as: OMIM:239200
AR
09/21/2023
Evaluated
11/30/2023
Submitted

Orphanet classifications

neonatal severe primary hyperparathyroidism
Submitted as: Orphanet:417
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant hypocalcemia
Submitted as: Orphanet:428
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial hypocalciuric hypercalcemia 1
Submitted as: Orphanet:93372
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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