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Groopman et al 2019 - Genes with diagnostic variants v0.4 PTPN11 Eleanor Williams reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Groopman et al 2019 - Genes with diagnostic variants v0.3 PTPN11 Eleanor Williams Source Expert Review Amber was added to PTPN11.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Groopman et al 2019 - Genes with diagnostic variants v0.2 PTPN11 Eleanor Williams gene: PTPN11 was added
gene: PTPN11 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber
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; MIM 163950; Nephropathy of unknown origin; Diabetic nephropathy