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Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Marked gene: PTPN11 as ready
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Classified gene: PTPN11 as Green List (high evidence)
Bleeding and Platelet Disorders v0.144 PTPN11 Zornitza Stark Gene: ptpn11 has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v0.143 PTPN11 Zornitza Stark gene: PTPN11 was added
gene: PTPN11 was added to Bleeding Disorders. Sources: Expert list
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTPN11 were set to Noonan syndrome 1, MIM# 163950
Mode of pathogenicity for gene: PTPN11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: PTPN11 was set to GREEN
Added comment: Thrombocytopaenia and bleeding tendency are common features of PTPN11-associated Noonan syndrome.
Sources: Expert list