Primary lymphoedema
Gene: PTPN11Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).Created: 27 Jun 2019, 3:48 p.m. | Last Modified: 27 Jun 2019, 3:48 p.m.
Panel Version: 1.68
Green gene from RASopathies (Version 1.55)(https://panelapp.genomicsengland.co.uk/panels/48/). Loss of function mutations in PTPN11 are identified in 90% of cases of LEOPARD syndrome. Gain of function mutations in PTPN11 are the cause of 50% of Noonan syndrome cases. - Helen Savage (Congenica Ltd)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
LEOPARD syndrome 1 151100; Noonan syndrome 1 163950
Publications
Publications for gene: PTPN11 were set to
Gene: ptpn11 has been classified as Green List (High Evidence).
gene: PTPN11 was added gene: PTPN11 was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTPN11 were set to Noonan syndrome 1 163950; LEOPARD syndrome 1 151100 Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments