Previous cardiomyopathies - including childhood onset
Gene: PTPN11
LEOPARD syndrome 1 OMIM#151100; Leukemia, juvenile myelomonocytic, somatic OMIM#607785;Metachondromatosis OMIM#156250; Noonan syndrome 1 OMIM#163950Created: 25 Mar 2019, 4:30 p.m.
Key rasopathy gene with paediatric onset disease.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to PTPN11.
Source South West GLH was added to PTPN11.
Eleanor Williams: Comment on publications: Addin
Added phenotypes syndromic HCM for gene: PTPN11
gene: PTPN11 was added gene: PTPN11 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN11 were set to 15240615; 12529711; PMID: 17603483; 17497712; 12634870; 15384080; 16263833; 11704759; 18678287 Phenotypes for gene: PTPN11 were set to Noonan syndrome 1; LEOPARD syndrome 1; Noonan syndrome; LEOPARD syndrome Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments