Growth failure in early childhood
Gene: CBL
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Phenotypes for gene: CBL were changed from Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563
Publications for gene: CBL were set to
Mode of pathogenicity for gene CBL was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia for gene: CBL
gene: CBL was added gene: CBL was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA Mode of pathogenicity for gene: CBL was set to Other - please provide details in the comments