PTPN11

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

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Green PTPN11 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PTPN11 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Noonan syndrome 1, MIM# 163950

Amber PTPN11 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • LEOPARD syndrome 1 MIM#151100
  • Noonan syndrome MIM#163950

Green PTPN11 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PTPN11 in Craniosynostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

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

Green PTPN11 in Hypertrophic cardiomyopathy


Level 2: Cardiovascular disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 1 MIM# 163950

Green PTPN11 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome #163950

Green PTPN11 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PTPN11 in Mendeliome


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • LEOPARD syndrome 1 (MIM#151100)
  • Noonan syndrome 1 (MIM#163950)
  • Metachondromatosis (MIM#156250)

Green PTPN11 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PTPN11 in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines)
  • Noonan syndrome 1, 163950 AD

Green PTPN11 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PTPN11 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Noonan Syndrome with Multiple Lentigines, OMIM # 151100

Green PTPN11 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Noonan syndrome 1, MIM#163950 AD
  • LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines)

Green PTPN11 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.0

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

Red PTPN11 in Vascular Malformations_Germline


Level 2: Cardiovascular disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • LEOPARD syndrome 1 151100
  • Noonan syndrome 1 163950
  • cystic hygroma

Green PTPN11 in Lymphoedema

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 1.0

0 reviews 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 Cardiomyopathy_Paediatric


Level 2: Cardiovascular disorders
Version 1.0

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

Green PTPN11 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Noonan syndrome

Red PTPN11 in Mosaic skin disorders


Level 2: Dermatological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Genomics England PanelApp
  • NHS GMS
Phenotypes
  • Noonan syndrome
  • Noonan syndrome with lentigines (LEOPARD)

Green PTPN11 in Growth failure


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines)
  • Noonan syndrome 1, MIM#163950

Green PTPN11 in Fetal anomalies


Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • LEOPARD syndrome 1, AD, MIM#151100 AD
  • Noonan syndrome 1, AD, MIM#163950

Red PTPN11 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category A gene
Phenotypes
  • Noonan syndrome 1, MIM# 163950

Green PTPN11 in Transplant Co-Morbidity


Level 2: Screening
Version 1.0

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Noonan syndrome 1, MIM# 163950