Cytopenias and congenital anaemias
Gene: CBLB
CBLB (Cbl proto-oncogene B)
EnsemblGeneIds (GRCh38): ENSG00000114423
EnsemblGeneIds (GRCh37): ENSG00000114423
OMIM: 604491, Gene2Phenotype
CBLB is in 2 panels
EnsemblGeneIds (GRCh38): ENSG00000114423
EnsemblGeneIds (GRCh37): ENSG00000114423
OMIM: 604491, Gene2Phenotype
CBLB is in 2 panels
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)
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
- 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