Primary lymphoedema
Gene: CBLComment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).Created: 27 Jun 2019, 3:41 p.m. | Last Modified: 27 Jun 2019, 3:41 p.m.
Panel Version: 1.48
Green gene from RASopathies (Version 1.55)(https://panelapp.genomicsengland.co.uk/panels/48/). Gain of function.Created: 27 Jun 2019, 3:36 p.m. | Last Modified: 27 Jun 2019, 3:36 p.m.
Panel Version: 1.45
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Publications
Gene: cbl has been classified as Green List (High Evidence).
Publications for gene: CBL were set to
Gene: cbl has been classified as Red List (Low Evidence).
gene: CBL was added gene: CBL was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 Mode of pathogenicity for gene: CBL was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments