IUGR and IGF abnormalities

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 28 panels

3 reviews

Philip Murray (University of Manchester)

Green List (high evidence)

Peter Clayton (University of Manchester)

Green List (high evidence)

emma baple (Genomics England Curator)

Comment on mode of pathogenicity: Gain of function mutations cause Noonan syndrome
Created: 3 Apr 2016, 7:13 p.m.

History Filter Activity

3 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Apr 2016, Gel status: 4

Set mode of pathogenicity

emma baple (Genomics England Curator)

Mode of pathogenicity for PTPN11 was changed to Other - please provide details in the comments

3 Apr 2016, Gel status: 4

Set Mode of Inheritance

emma baple (Genomics England Curator)

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

3 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

PTPN11 was added to IUGR and IGF abnormalitiespanel. Sources: Emory Genetics Laboratory