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Fetal anomalies

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 24 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

Genotype-phenotype correlation summary for phenotypes caused by germline variants:
1. LEOPARD (Noonan syndrome with multiple lentigines): missense in active site of PTP domain resulting in GoF (PMID: 24935154)
2. Metachondromatosis: LoF variants caused by protein truncating variants (PMID: 21533187)
3. Noonan: missense clustered between N-SH2 and PTP domains resulting in GoF (PMID: 11992261, PMID: 24935154)
Created: 20 Mar 2020, 2:34 a.m. | Last Modified: 20 Mar 2020, 2:34 a.m.
Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines); Metachondromatosis, 156250 AD; Noonan syndrome 1, 163950 AD; Leukemia, juvenile myelomonocytic, somatic, 607785

Publications

Mode of pathogenicity
Other

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

Created: 20 Mar 2020, 2:34 a.m.
Last Modified: 20 Mar 2020, 2:34 a.m.
Panel version: Imported from Rasopathy panel version 0.11

History Filter Activity

1 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

1 Mar 2022, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: PTPN11 were changed from LEOPARD SYNDROME TYPE 1; NOONAN SYNDROME 1 to LEOPARD syndrome 1, AD, MIM#151100 AD; Noonan syndrome 1, AD, MIM#163950

1 Mar 2022, Gel status: 3

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: PTPN11 were set to 30266093; 28425981

1 Mar 2022, Gel status: 3

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

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

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PTPN11 was added gene: PTPN11 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTPN11 were set to 30266093; 28425981 Phenotypes for gene: PTPN11 were set to LEOPARD SYNDROME TYPE 1; NOONAN SYNDROME 1