Primary lymphoedema

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 29 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).
Created: 27 Jun 2019, 3:48 p.m. | Last Modified: 27 Jun 2019, 3:48 p.m.
Panel Version: 1.68

Sahar Mansour (St George's Hospital, London)

Green List (high evidence)

Green gene from RASopathies (Version 1.55)(https://panelapp.genomicsengland.co.uk/panels/48/). Loss of function mutations in PTPN11 are identified in 90% of cases of LEOPARD syndrome. Gain of function mutations in PTPN11 are the cause of 50% of Noonan syndrome cases. - Helen Savage (Congenica Ltd)
Created: 27 Jun 2019, 3:36 p.m. | Last Modified: 27 Jun 2019, 3:36 p.m.
Panel Version: 1.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
LEOPARD syndrome 1 151100; Noonan syndrome 1 163950

Publications

History Filter Activity

27 Jun 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PTPN11 were set to

27 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

27 Jun 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Sarah Leigh (Genomics England Curator)

gene: PTPN11 was added gene: PTPN11 was added to Primary lymphoedema. Sources: Expert Review 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 163950; LEOPARD syndrome 1 151100 Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments