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Skeletal dysplasia

Gene: CASR

Green List (high evidence)

CASR (calcium sensing receptor)
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 14 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR/AD - 239200 & 145980 listed in abnormal mineralization gp of SD. Several cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperparathyroidism, neonatal 239200; Hypocalcemia, autosomal dominant 601198; Hypocalcemia, autosomal dominant, with Bartter syndrome 601198; Hypocalciuric hypercalcemia, type I 145980

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CASR; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Numerous variants reported in these phenotypes
Created: 13 Jul 2016, 7:53 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)
Created: 21 Jun 2016, 12:31 p.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperparathyroidism, neonatal 239200; Hypocalcemia, autosomal dominant 601198; Hypocalcemia, autosomal dominant, with Bartter syndrome 601198; Hypocalciuric hypercalcemia, type I 145980

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Hypocalcemia, autosomal dominant 601198
  • Hypocalciuric hypercalcemia, type I 145980
  • Hyperparathyroidism, neonatal 239200
  • Hypocalcemia, autosomal dominant, with Bartter syndrome 601198
OMIM
601199
Clinvar variants
Variants in CASR
Penetrance
Complete
Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Hypocalcemia, autosomal dominant 601198; Hypocalciuric hypercalcemia, type I 145980; Hyperparathyroidism, neonatal 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome 601198 for gene: CASR

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CASR. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

13 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Jul 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CASR were set to Hyperparathyroidism, neonatal 239200; Hypocalcemia, autosomal dominant 601198; Hypocalcemia, autosomal dominant, with Bartter syndrome 601198; Hypocalciuric hypercalcemia, type I 145980

7 Jul 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for CASR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

21 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CASR was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory CASR was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

CASR was created by sleigh

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

CASR was added to Unexplained skeletal dysplasiapanel. Sources: