Familial hyperparathyroidism or hypocalciuric hypercalcaemia
Gene: CASREnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 13 panels
2 reviews
Treena Cranston (Oxford)
gene also associated with neonatal hyperparathyroidism and autosomal dominant hypocalcaemia (ADH - activating mutations)Created: 9 Jan 2019, 4:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
familial isolated hyperparathyroidism; FHH1
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ivone Leong (Genomics England Curator)
As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 29 Jan 2019, 11:52 a.m.
CASR is confirmed to be associated with severe neonatal hyperparathyroidism on OMIM but not in Gene2Phenotype. CASR is also a green gene in the Familial hypoparathyroidism panel (Version 1.7) and Nephrocalcinosis or nephrolithiasis (Version 1.15). There are >3 unrelated cases of patients diagnosed with severe neonatal hyperparathyroidism who have variants in the CASR gene.Created: 5 Dec 2018, 2:17 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hyperparathyroidism, neonatal, OMIM:239200
- Hypocalcemia, autosomal dominant, OMIM:601198
- Hypocalcemia, autosomal dominant, with Bartter syndrome, OMIM:601198
- Hypocalciuric hypercalcemia, type I, OMIM:145980
- Familial isolated hyperparathyroidism
- FHH1
- OMIM
- 601199
- Clinvar variants
- Variants in CASR
- Penetrance
- None
- Publications
- Panels with this gene
-
- Calcium-sensing receptor phenotypes
- Nephrocalcinosis or nephrolithiasis
- Early onset or syndromic epilepsy
- Familial pulmonary fibrosis
- Renal tubulopathies
- Parathyroid Cancer
- Intellectual disability
- Fetal anomalies
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
- Skeletal dysplasia
- Osteogenesis imperfecta
- Familial hypoparathyroidism
- Pancreatitis
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635; 25162666; 28740527
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198); Familial isolated hyperparathyroidism; FHH1 to Hyperparathyroidism, neonatal, OMIM:239200; Hypocalcemia, autosomal dominant, OMIM:601198; Hypocalcemia, autosomal dominant, with Bartter syndrome, OMIM:601198; Hypocalciuric hypercalcemia, type I, OMIM:145980; Familial isolated hyperparathyroidism; FHH1
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: CASR is confirmed to be associ
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CASR were changed from Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198) to Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198); Familial isolated hyperparathyroidism; FHH1
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: casr has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CASR was added gene: CASR was added to Familial hyperparathyroidism. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CASR were set to 15292296; 7916660; 9253359; 8675635 Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal (239200); Hypocalcemia, autosomal dominant (601198)