Growth failure in early childhood
Gene: PTPN11
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
LEOPARD syndrome; LEOPARD syndrome 1; Noonan syndrome; Noonan syndrome 1
Publications
Mode of pathogenicity
Other - please provide details in the comments
Phenotypes for gene: PTPN11 were changed from LEOPARD syndrome 1; LEOPARD syndrome; Noonan syndrome 1; Noonan syndrome to LEOPARD syndrome 1, OMIM:151100; Noonan syndrome 1, OMIM:163950
Publications for gene: PTPN11 were set to
Added phenotypes LEOPARD syndrome 1; LEOPARD syndrome; Noonan syndrome 1; Noonan syndrome for gene: PTPN11
gene: PTPN11 was added gene: PTPN11 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments