PTPN11

protein tyrosine phosphatase, non-receptor type 11
OMIM: 176876, Gene2Phenotype

30 panels

Panel Reviews Mode of inheritance Details
30 panels

Green PTPN11 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: Ras-opathy
  • Noonan syndrome
  • JMML, ALL
  • Solid tumors

Green PTPN11 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.30

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory

Green PTPN11 in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.26

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • UKGTN
Phenotypes
  • Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100

Green PTPN11 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.22

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • LEOPARD syndrome
  • LEOPARD syndrome 1
  • Noonan syndrome
  • Noonan syndrome 1

Green PTPN11 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.7
Signed off v.2.5 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • Noonan syndrome
  • 163950

Green PTPN11 in Pigmentary skin disorders


Version 1.3
Signed off v.1.2 on 19 Feb 2020

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Noonan syndrome with lentigines (LEOPARD)
  • LEOPARD SYNDROME 1
  • LPRD1, NOONAN SYNDROME 1
  • Noonan syndrome
  • NS1

Green PTPN11 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.156

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Bleeding disorder
  • LEOPARD syndrome, Leukemia, Juvenile myelomonocytic, somatic
  • Metachondromatosis
  • Noonan syndrome

Red PTPN11 in Hypertrophic cardiomyopathy - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.4
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Expert list
    Phenotypes
    • syndromic HCM

    Red PTPN11 in Autism


    Version 0.15

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Red PTPN11 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.73

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BRIDGE consortium (NIHRBR-RD)
    Phenotypes
    • LEOPARD syndrome 1 151100
    • Metachondromatosis 156250
    • Noonan syndrome 1 163950
    • Myelodysplastic syndrome (MDS), Paediatric

    Amber PTPN11 in Mosaic skin disorders - deep sequencing


    Version 1.3
    Signed off v.1.2 on 19 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    Phenotypes
    • Noonan syndrome
    • Noonan syndrome with lentigines (LEOPARD)

    Green PTPN11 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Noonan syndrome

    Green PTPN11 in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.4
    Signed off v.2.2 on 18 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Noonan syndrome

    Green PTPN11 in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 2.3
    Signed off v.2.2 on 18 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Curated sources
    Phenotypes
    • Class: Ras-opathy
    • Noonan syndrome
    • JMML, ALL
    • Solid tumors

    Green PTPN11 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Metachondromatosis 156250
    • LEOPARD syndrome 1 151100
    • Noonan syndrome 1 163950
    • LEOPARD syndrome 1 151100

    Amber PTPN11 in Bleeding and platelet disorders


    Version 1.4
    Signed off v.1.2 on 3 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • North West GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • 163950 Noonan syndrome 1

    Red PTPN11 in Cytopenia - NOT Fanconi anaemia


    Version 1.6
    Signed off v.1.2 on 3 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert review Red
    • NHS GMS
    • North West GLH
    • London South GLH
    • Yorkshire and North East GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Noonan syndrome 1, 163950

    Green PTPN11 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LEOPARD SYNDROME TYPE 1
    • NOONAN SYNDROME 1

    Green PTPN11 in Craniosynostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 2.9
    Signed off v.2.2 on 13 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Noonan syndrome type 1 163950
    • leopard syndrome 151100

    No list PTPN11 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.6
    Signed off v.2.2 on 13 Feb 2020

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Proportionate Short Stature/Small for Gestational Age
    • Disproportionate Short Stature

    Green PTPN11 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • LEOPARD SYNDROME TYPE 1 151100
    • NOONAN SYNDROME 1 163950

    Green PTPN11 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.369

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy
    • Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus

    Green PTPN11 in Growth failure in early childhood


    Version 1.8
    Signed off v.1.4 on 3 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • LEOPARD syndrome 1
    • LEOPARD syndrome
    • Noonan syndrome 1
    • Noonan syndrome

    Green PTPN11 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.135
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Noonan syndrome 1, 163950LEOPARD syndrome 1, 151100Leukemia, juvenile myelomonocytic, 607785Metachondromatosis, 156250
    • LEOPARD SYNDROME TYPE 1

    Green PTPN11 in RASopathies

    Level 3: RASopathies
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.55

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Eligibility statement prior genetic testing
    Phenotypes
    • LEOPARD syndrome 1 151100
    • Noonan syndrome 1 163950

    Green PTPN11 in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Noonan syndrome 1 163950
    • LEOPARD syndrome 1 151100

    Amber PTPN11 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Exper review amber
    • Literature
    Phenotypes
    • Noonan syndrome 1
    • MIM 163950
    • Nephropathy of unknown origin
    • Diabetic nephropathy

    Green PTPN11 in Cardiomyopathies - including childhood onset


    Version 1.5
    Signed off v.1.4 on 19 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert List
    • South West GLH
    • London South GLH
    • Expert Review Green
    Phenotypes
    • Noonan syndrome 1
    • LEOPARD syndrome 1 151100
    • LEOPARD syndrome 1
    • Noonan syndrome 1 163950
    • Noonan syndrome
    • syndromic HCM
    • LEOPARD syndrome

    Amber PTPN11 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.5
    Signed off v.1.2 on 27 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • London North GLH
    • South West GLH
    • Emory Genetics Laboratory
    • London North GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy
    • Congenital heart defect, multiple lentigines, hypertrophic neuropathy of lumbar plexus

    Green PTPN11 in Severe Paediatric Disorders


    Version 1.6

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Metachondromatosis, 156250
    • Noonan syndrome 1, 163950
    • LEOPARD syndrome 1, 151100