Newborns additional phenotypes panel 1
Gene: CASREnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 13 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Special Consideration: Newborns Variant Discussion (NVD) recommended.
Additional Information: There are three additional AD phenotypes associated with CASR, which do not meet the Generation Study's four principles: 1) Hypocalcemia, autosomal dominant; 2) Hypocalcemia, autosomal dominant, with Bartter syndrome; 3) Hypocalciuric hypercalcemia, type I. GOF variants known to be associated with these phenotypes should not be reported. Low threshold for NVD discussion where there is uncertainty.Created: 25 Sep 2024, 3:18 p.m. | Last Modified: 25 Sep 2024, 3:18 p.m.
Panel Version: 0.100
Special Consideration: Do not report GOF variants.Created: 25 Sep 2024, 3:17 p.m. | Last Modified: 25 Sep 2024, 3:17 p.m.
Panel Version: 0.100
Special Consideration: Multiple MOIs for the same phenotype included.
Additional Information: AD and AR forms of Neonatal hyperparathyroidism are included.Created: 25 Sep 2024, 3:16 p.m. | Last Modified: 18 Nov 2025, 3:18 p.m.
Panel Version: 0.102
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is loss-of-function (LOF); however no LOF prioritisation for AD Neonatal hyperparathyroidism phenotype since truncating variants are usually associated with recessive phenotype.Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 7 Jul 2023, 9:44 a.m.
Panel Version: 0.31
Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene - PubMed (nih.gov)Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Neonatal hyperparathyroidism, Autosomal Dominant
- Tags
- OMIM
- 601199
- Clinvar variants
- Variants in CASR
- Penetrance
- None
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Skeletal dysplasia
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Early onset or syndromic epilepsy
- Familial hypoparathyroidism
- Pancreatitis
- Fetal anomalies
- Calcium-sensing receptor phenotypes
- Nephrocalcinosis or nephrolithiasis
- Osteogenesis imperfecta
- Intellectual disability
- Familial pulmonary fibrosis
- Renal tubulopathies
- Parathyroid Cancer
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag special_consideration tag was added to gene: CASR.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CASR were changed from Neonatal hyperparathyroidism to Neonatal hyperparathyroidism, Autosomal Dominant
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Added phenotypes Neonatal hyperparathyroidism for gene: CASR
Set mode of pathogenicity
Mafalda Gomes (Genomics England Curator)Mode of pathogenicity for gene: CASR was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Set mode of pathogenicity
Mafalda Gomes (Genomics England Curator)Mode of pathogenicity for gene: CASR was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to CASR. Mode of pathogenicity for gene CASR was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Neonatal hyperparathyroidism for gene: CASR Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set mode of pathogenicity
Mafalda Gomes (Genomics England Curator)Mode of pathogenicity for gene: CASR was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Removed Tag
Mafalda Gomes (Genomics England Curator)Tag GOF was removed from gene: CASR.
Set Phenotypes
Mafalda Gomes (Genomics England Curator)Phenotypes for gene: CASR were changed from Autosomal dominant hypocalcemia 1; Neonatal hyperparathyroidism to Neonatal hyperparathyroidism
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to CASR. Added phenotypes Neonatal hyperparathyroidism for gene: CASR Rating Changed from No List (delete) to Amber List (moderate evidence)
Added Tag
Mafalda Gomes (Genomics England Curator)Tag GOF tag was added to gene: CASR.
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Mafalda Gomes (Genomics England Curator)gene: CASR was added gene: CASR was added to Newborns additional phenotypes panel. Sources: Expert Review Removed Mode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CASR were set to Autosomal dominant hypocalcemia 1 Mode of pathogenicity for gene: CASR was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments