1. Genes and Genomic Entities
  2. PTPN11

PTPN11

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

27 panels

Panel Reviews Mode of inheritance Details
27 panels
Green PTPN11 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.19

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 1.70

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 1.33

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 1.95

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 Childhood solid tumours


Level 2: Cancer susceptibility
Version 5.9
Latest signed off version: v5.0 (30 Apr 2025)

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


Level 2: Dermatology
Version 4.13
Latest signed off version: v4.0 (30 Apr 2025)

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 1.182

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


Level 2: Cardiology
Version 5.29
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Expert list
    Phenotypes
    • syndromic HCM
    Red PTPN11 in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.123

    		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
    Green PTPN11 in Mosaic skin disorders - deep sequencing


    Level 2: Dermatology
    Version 3.27
    Latest signed off version: v3.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    Phenotypes
    • Phakomatosis pigmentovascularis (PPV), MONDO:0017318
    • LEOPARD syndrome 1, OMIM:151100
    • Speckled lentiginous naevus syndrome (deletion)
    Green PTPN11 in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.30

    		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 2: Cancer susceptibility
    Version 2.35
    Latest signed off version: v2.2 (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 2: Cancer susceptibility
    Version 4.37
    Latest signed off version: v4.0 (22 Mar 2023)

    		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 2: Musculoskeletal
    Version 8.33
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Emory Genetics Laboratory
    Phenotypes
    • Metachondromatosis 156250
    • LEOPARD syndrome 1 151100
    • Noonan syndrome 1 163950
    • LEOPARD syndrome 1 151100
    Amber PTPN11 in Bleeding and platelet disorders


    Level 2: Haematology
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    		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


    Level 2: Haematology
    Version 4.32
    Latest signed off version: v4.0 (30 Apr 2025)

    		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


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 Rare syndromic craniosynostosis or isolated multisuture synostosis


    Level 2: Musculoskeletal
    Version 6.3
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 2: Musculoskeletal
    Version 5.4
    Latest signed off version: v5.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Proportionate Short Stature/Small for Gestational Age
    • Disproportionate Short Stature
    Tags
    • curated_removed
    Green PTPN11 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 1.506

    		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 Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 1.87

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Eligibility statement prior genetic testing
    • UKGTN
    Phenotypes
    • LEOPARD syndrome 1 151100
    • Noonan syndrome 1 163950
    Green PTPN11 in Primary lymphoedema


    Level 2: Cardiology
    Version 4.21
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Noonan syndrome 1 163950
    • LEOPARD syndrome 1 151100
    Green PTPN11 in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 7.96
    Latest signed off version: v7.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		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 Monogenic short stature


    Level 2: Endocrinology
    Version 1.31
    Latest signed off version: v1.0 (7 Aug 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • LEOPARD syndrome 1, OMIM:151100
    • Noonan syndrome 1, OMIM:163950