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Cytopenias and congenital anaemias

Gene: CALR

Red List (low evidence)

CALR (calreticulin)
EnsemblGeneIds (GRCh38): ENSG00000179218
EnsemblGeneIds (GRCh37): ENSG00000179218
OMIM: 109091, Gene2Phenotype
CALR is in 1 panel

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on publications: added publications showing evidence for somatic variants only
Created: 28 Feb 2017, 1:35 p.m.
Variants in this CALR that cause the disorder are somatic variants rather than germline
Created: 28 Feb 2017, 1:27 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Myelofibrosis; Essential thrombocythemia (ET)

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

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelofibrosis
  • Essential thrombocythemia (ET)
  • Myelofibrosis, somatic, 254450
  • Thrombocythemia, somatic,187950
Tags
somatic
OMIM
109091
Clinvar variants
Variants in CALR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Feb 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for CALR were set to 24325356; 24325359

28 Feb 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for CALR were set to Myelofibrosis; Essential thrombocythemia (ET);Myelofibrosis, somatic, 254450;Thrombocythemia, somatic,187950

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

CALR was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

CALR was created by LouiseD