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  3. CASR
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BRIDGE_SPEED_NEURO_20170705

Gene: CASR

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

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_omim_20150205_epilepsies;in_UKGTN_v12 . Main mutation mechanism : NA
Created: 28 Jul 2017, 8:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • omim.org
  • Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 1:37 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 9:30 a.m.
Created: 31 Jul 2017, 9:30 a.m.

Panel version: 0.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Hypocalciuric hypercalcemia, type I, 145980
  • Hyperparathyroidism, neonatal, 239200
  • Hypocalcemia, autosomal dominant, 601198
  • Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198
  • {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899
  • Hypercalciuric hypercalcemia
  • {Calcium, serum level of}
OMIM
601199
Clinvar variants
Variants in CASR
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CASR were set to Hypocalciuric hypercalcemia, type I, 145980; Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, 601198; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198; {Epilepsy idiopathic generalized, susceptibility to, 8}, 612899; Hypercalciuric hypercalcemia; {Calcium, serum level of}

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

CASR was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

CASR was created by LouiseD