Cytopenias and congenital anaemiasGene: PTPN11
Comment when marking as ready: Conditions associated with germline mutations do not have a prominent haematological component. Noonan syndrome can be associated with bleeding tendendy but this is not appropriate for inclusion on this panel. Somatic mutations of the rasopathy genes are implicated in haematological malignancy, PTPN11 in JMML, but this is out of scope for the panel.
Created: 9 Mar 2017, 4:29 p.m.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for PTPN11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for PTPN11 were set to LEOPARD syndrome 1 151100; Metachondromatosis 156250; Noonan syndrome 1 163950; Myelodysplastic syndrome (MDS), Paediatric
PTPN11 was created by LouiseD
PTPN11 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)