Cytopenias and congenital anaemias
Gene: CBL
CBL (Cbl proto-oncogene)
EnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000110395
EnsemblGeneIds (GRCh37): ENSG00000110395
OMIM: 165360, Gene2Phenotype
CBL is in 18 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Unsure whether this should be included due to the association with Noonan syndrome. PMID:20543203 - describes 3 patients wirh a first hit in the germline mutation inherited from the father, with somatic loss of heterozygosity being the second hit positively selected in juvenile myelomonocytic leukaemia cells. The three patients display a variable combination of dysmorphic features, hyperpigmented skin lesions and microcephaly that enable a 'CBL syndrome' to be tentatively delineated.Created: 1 Mar 2017, 5:12 p.m.
Comment on list classification: Unsure whether this should be included due to the association with Noonan syndrome. PMID:20543203 - describes 3 patients wirh a first hit in the germline mutation inherited from the father, with somatic loss of heterozygosity being the second hit positively selected in juvenile myelomonocytic leukaemia cells. The three patients display a variable combination of dysmorphic features, hyperpigmented skin lesions and microcephaly that enable a 'CBL syndrome' to be tentatively delineated.Created: 1 Mar 2017, 5:12 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Myelodysplastic syndrome (MDS), Paediatric
- Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
- OMIM
- 165360
- Clinvar variants
- Variants in CBL
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenias and congenital anaemias
- DDG2P
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Monogenic short stature
- Fetal hydrops
- Cerebral vascular malformations
- Haematological malignancies for rare disease
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Fetal anomalies
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
History Filter Activity
11 Mar 2017, Gel status: 2
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.
1 Mar 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
1 Mar 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
1 Mar 2017, Gel status: 0
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for CBL were set to Myelodysplastic syndrome (MDS), Paediatric;Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
17 Feb 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)CBL was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)CBL was created by LouiseD