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Cardiomyopathies - including childhood onset

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

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

I don't know

LEOPARD syndrome 1 OMIM#151100; Leukemia, juvenile myelomonocytic, somatic OMIM#607785;Metachondromatosis OMIM#156250; Noonan syndrome 1 OMIM#163950
Created: 25 Mar 2019, 4:30 p.m.
Key rasopathy gene with paediatric onset disease.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: See comments from reviewer - both loss-of-function and gain-of-function variants may be relevant.
Created: 5 Feb 2016, 12:39 p.m.
Comment when marking as ready: Comments from Reviewer: 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), Jan. 21, 2016, 11:25 a.m. Gain of function mutations in PTPN11 cause Noonan syndrome and LEOPARD syndrome. These disorders share phenotypes with Legius syndrome. No reports of mutations in PTPN11 causing Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 25, 2016, 11:45 a.m. Gain of function mutations in, and rare duplications of, PTPN11 cause ~50% of Noonan syndrome cases. Loss of function mutations cause ~90% of LEOPARD syndrome cases. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 2:21 p.m.
Created: 5 Feb 2016, 12:35 p.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Gain of function mutations cause Noonan syndrome; loss of function mutations cause LEOPARD syndrome
Created: 1 Feb 2016, 10:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome; LEOPARD syndrome

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

History Filter Activity

2 Dec 2019, Gel status: 3

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PTPN11.

4 Sep 2019, Gel status: 3

Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source Expert List was added to PTPN11. Mode of pathogenicity for gene PTPN11 was changed from to Other - please provide details in the comments Added phenotypes LEOPARD syndrome 1 151100; Noonan syndrome 1 163950 for gene: PTPN11 Publications for gene PTPN11 were changed from 18678287; 16263833; PMID: 17603483; 15384080; 11704759; 17497712; 15240615; 12529711; 12634870 to 17603483; 15384080; 15240615; 16263833; 18678287; 12529711; 17497712; 12634870; 11704759

4 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: PTPN11 was added gene: PTPN11 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN11 were set to 18678287; 16263833; PMID: 17603483; 15384080; 11704759; 17497712; 15240615; 12529711; 12634870 Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1; Noonan syndrome; syndromic HCM; Noonan syndrome 1; LEOPARD syndrome