Activity
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6 actions
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| 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 |
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