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  2. Familial pulmonary fibrosis
  3. CASR
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Familial pulmonary fibrosis

Gene: CASR

Amber List (moderate evidence)
CASR (calcium sensing receptor)
EnsemblGeneIds (GRCh38): ENSG00000036828
EnsemblGeneIds (GRCh37): ENSG00000036828
OMIM: 601199, Gene2Phenotype
CASR is in 13 panels

2 reviews

Philip Molyneaux (Imperial College)

I don't know

Fibrosis identified in one family with hypocalciuric hypercalcemia, but predominant signal that of recurrent infections rather than fibrosis. Would be inclined not to include
Created: 26 Apr 2017, 9:45 a.m.
Created: 26 Apr 2017, 9:45 a.m.

Panel version: 0.110

Alice Gardham (Genomics England)

I don't know

Interstitial lung disease has occasionally been reported in familial hypocalciuric hypercalcaemia but only in one patient with a proven CASR mutation
Created: 9 Feb 2017, 2:43 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypocalciuric hypercalcemia, type I 145980

Publications

Created: 9 Feb 2017, 2:43 p.m.

Panel version: 0.88

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Hypocalciuric hypercalcemia, type I, 145980
OMIM
601199
Clinvar variants
Variants in CASR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Apr 2017, Gel status: 2

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017

27 Apr 2017, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CASR were set to Hypocalciuric hypercalcemia, type I, 145980

9 Feb 2017, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

9 Feb 2017, Gel status: 0

Created

Alice Gardham (Genomics England)

CASR was created by agardham

9 Feb 2017, Gel status: 4

Added New Source

Alice Gardham (Genomics England)

CASR was added to Familial pulmonary fibrosispanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory,UKGTN