Inherited bleeding disorders
Gene: PTPN11Comment on list classification: Changed rating from Grey to Green based on expert list/supporting information from the NIHRBR-RD BRIDGE projectCreated: 9 Aug 2017, 1:34 p.m.
Comment on publications: added recent publication to support phenotypeCreated: 9 Aug 2017, 1:34 p.m.
Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, observed in the NIHRBR-RD BRIDGE cohort.Created: 9 Aug 2017, 12:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Bleeding disorder; LEOPARD syndrome, Leukemia, Juvenile myelomonocytic, somatic; Metachondromatosis; Noonan syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
Publications for PTPN11 were set to 11704759; 28587547
PTPN11 was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene
PTPN11 was created by BRIDGE