Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Primary lymphoedema v1.69 PTPN11 Sarah Leigh Publications for gene: PTPN11 were set to
Primary lymphoedema v1.68 PTPN11 Sarah Leigh Classified gene: PTPN11 as Green List (high evidence)
Primary lymphoedema v1.68 PTPN11 Sarah Leigh Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).
Primary lymphoedema v1.68 PTPN11 Sarah Leigh Gene: ptpn11 has been classified as Green List (High Evidence).
Primary lymphoedema v1.45 PTPN11 Sahar Mansour reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: 17603483, 11704759, 12529711, 12634870, 15384080, 15240615, 16263833, 17497712, 18678287; Phenotypes: LEOPARD syndrome 1 151100, Noonan syndrome 1 163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.44 PTPN11 Sarah Leigh 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