Cytopenias and congenital anaemias
Gene: CBLComment 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.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for CBL were set to Myelodysplastic syndrome (MDS), Paediatric;Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
CBL was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
CBL was created by LouiseD