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Cytopenias and congenital anaemias

Gene: CBLB

Red List (low evidence)

CBLB (Cbl proto-oncogene B)
EnsemblGeneIds (GRCh38): ENSG00000114423
EnsemblGeneIds (GRCh37): ENSG00000114423
OMIM: 604491, Gene2Phenotype
CBLB is in 1 panel

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Not associated with a disease in OMIM, Gene2Phenotype or OMIM. On the COSMIC Gene Census list for somatic acute myeloid leukaemia with mutation type: splice site and missense.
Created: 3 Mar 2017, 11:48 a.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
Unknown

Phenotypes
Acute myeloid leukaemia (AML)

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

Details

Mode of Inheritance
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Acute myeloid leukaemia (AML)
Tags
somatic
OMIM
604491
Clinvar variants
Variants in CBLB
Penetrance
Complete
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.

3 Mar 2017, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for CBLB was changed to Other - please specifiy in evaluation comments

3 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

3 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

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

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

CBLB was created by LouiseD