Cytopenias and congenital anaemias
Gene: CALR

CALR (calreticulin)
EnsemblGeneIds (GRCh38): ENSG00000179218
EnsemblGeneIds (GRCh37): ENSG00000179218
OMIM: 109091, Gene2Phenotype
CALR is in 2 panels

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.

Created: 28 Feb 2017, 1:27 p.m.

Panel version: 0.148

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

Created: 16 Jan 2017, 3:45 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

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