Craniosynostosis

Gene: PTPN11

Green List (high 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

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Ueda et al 2017 - describe 3 patients with mutations in PTPN11 and CSS. ; Review on behalf of Tracy Lester/Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome type 1 - 163950; leopard syndrome - 151100

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Upgrading to red to green. This gene causes Noonan syndrome and an an association with craniosynostosis is well documented. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13.
Created: 21 May 2019, 10:17 a.m.
Comment on publications: Ueda et al 2017 PMID: 28650561
Created: 2 May 2019, 9:50 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PTPN11; Suggested initial gene rating: green
Created: 5 Mar 2019, 11:21 a.m.

History Filter Activity

21 May 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PTPN11 were changed from Noonan syndrome type 1 163950; leopard syndrome 151100 to Noonan syndrome type 1 163950; leopard syndrome 151100

21 May 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PTPN11 were changed from Noonan syndrome type 1 - 163950; leopard syndrome 151100 to Noonan syndrome type 1 163950; leopard syndrome 151100

21 May 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ptpn11 has been classified as Green List (High Evidence).

21 May 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

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

11 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Noonan syndrome type 1 - 163950; leopard syndrome 151100 for gene: PTPN11

2 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PTPN11 were set to

5 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: PTPN11 was added gene: PTPN11 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: PTPN11 was set to