Hypertrophic cardiomyopathy - teen and adult

Gene: PTPN11

Red List (low evidence)

PTPN11 (protein tyrosine phosphatase, non-receptor type 11)
EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 28 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

LEOPARD syndrome 1 (151100); Noonan syndrome 1 (163950)
Created: 25 Mar 2019, 4:30 p.m.
Some patients may have HCM
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to PTPN11. Mode of inheritance for gene PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PTPN11 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list