Skeletal dysplasia
Gene: PTPN11
disorganized development of skeletal components gp of SD -several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LEOPARD syndrome 1 151100; Metachondromatosis 156250; Noonan syndrome 1 163950
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PTPN11; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 12:03 p.m.
Comment on phenotypes: Somatic variants also reported in Leukemia, juvenile myelomonocytic, 607785Created: 12 Jul 2016, 12:02 p.m.
Tier 3Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Metachondromatosis 156250; Noonan syndrome 1 163950
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Metachondromatosis 156250; LEOPARD syndrome 1 151100; Noonan syndrome 1 163950 for gene: PTPN11
Source NHS GMS was added to PTPN11. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for PTPN11 were set to LEOPARD syndrome 1 151100; Metachondromatosis 156250; Noonan syndrome 1 163950
Mode of inheritance for PTPN11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
PTPN11 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
PTPN11 was created by sleigh
PTPN11 was added to Unexplained skeletal dysplasiapanel. Sources: