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Cytopenias and congenital anaemias

Gene: PTPN11

Red List (low evidence)

PTPN11 (protein tyrosine phosphatase, non-receptor type 11)
EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 30 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance

Myelodysplastic syndrome (MDS), Paediatric


Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

11 Mar 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Mar 2017, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for PTPN11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Mar 2017, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PTPN11 were set to LEOPARD syndrome 1 151100; Metachondromatosis 156250; Noonan syndrome 1 163950; Myelodysplastic syndrome (MDS), Paediatric

17 Feb 2017, Gel status: 0


Louise Daugherty (Genomics England Curator)

PTPN11 was created by LouiseD

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

PTPN11 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)