Familial hypoparathyroidism

Gene: CASR

Green List (high evidence)

CASR (calcium sensing receptor)
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 12 panels

3 reviews

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: 5 Feb 2019, 2:37 p.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Found in 2/4 sources. One reviewer recommends Green. Current diagnostic
Created: 3 Jun 2016, 2:38 p.m.
Comment on mode of pathogenicity: ADH1 caused by GOF mutations in CASR, LOF cause FHH1/FIHP/NHPT
Created: 3 Jun 2016, 2:21 p.m.

Treena Cranston (Oxford)

Green List (high evidence)

ADH1 caused by GOF mutations in CASR, LOF cause FHH1/FIHP/NHPT
Created: 13 Oct 2015, 11:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
ADH1

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Expert list
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hyperparathyroidism, neonatal, 239200
  • Hypocalcemia, autosomal dominant, with or without Bartter syndrome, 601198
OMIM
601199
Clinvar variants
Variants in CASR
Penetrance
Complete
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

History Filter Activity

3 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).

3 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).

3 Jun 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CASR were set to Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with or without Bartter syndrome, 601198

3 Jun 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

3 Jun 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CASR were set to Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with and without Bartter syndrome, 601198

3 Jun 2016, Gel status: 2

Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

Mode of pathogenicity for CASR was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

3 Jun 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene CASR were set to Familial Isolated Hypoparathyroidism;Hypoparathyroidism, Familial Isolated

12 Aug 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

CASR was added to Familial or syndromic hypoparathyroidismpanel. Sources: Eligibility statement prior genetic testing

3 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

CASR was added to Familial or syndromic hypoparathyroidismpanel. Sources: Expert list

3 Aug 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

CASR was added to Familial or syndromic hypoparathyroidismpanel. Sources: UKGTN

3 Aug 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

CASR was added to Familial or syndromic hypoparathyroidismpanel. Sources: Illumina TruGenome Clinical Sequencing Services