PanelApp
  1. Genes and Genomic Entities
  2. NF1

NF1

neurofibromin 1
OMIM: 613113, Gene2Phenotype

26 panels

Panel Reviews Mode of inheritance Details
26 panels

Green NF1 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.205

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green NF1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green NF1 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.127

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green NF1 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurofibromatosis, type 1, MIM# 162200
  • Diffuse interstitial lung disease
  • Pulmonary hypertension

Green NF1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green NF1 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukemia, juvenile myelomonocytic 607785
  • Neurofibromatosis, familial spinal 162210
  • Neurofibromatosis, type 1 162200
  • Neurofibromatosis-Noonan syndrome 601321
  • Watson syndrome 193520

Green NF1 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green NF1 in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.105

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurofibromatosis, type 1, MIM# 162200
  • Neurofibromatosis-Noonan syndrome, MIM# 601321

Amber NF1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.119

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurofibromatosis, type 1 (MIM#162200)

    Green NF1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green NF1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Neurofibromatosis, type 1 (MIM#162200)

    Green NF1 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.305

    		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
    • Neurofibromatosis-Noonan syndrome 601321
    • Neurofibromatosis, type 1 162200
    • Neurofibromatosis, type 1 162200
    • Neurofibromatosis, familial spinal 162210
    • Neurofibromatosis-Noonan syndrome 601321
    • Neurofibromatosis, familial spinal 162210

    Green NF1 in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurofibromatosis, type 1 162200
    • Neurofibromatosis-Noonan syndrome 601321

    Green NF1 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurofibromatosis, type 1 MIM#162200

    Green NF1 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Moyamoya disease
    • Neurofibromatosis, type 1 162200

    Green NF1 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • London South GLH
    • Expert List
    • NHS GMS
    Phenotypes
    • Neurofibromatosis, type 1 162200
    • Neurofibromatosis Noonan syndrome
    • Neurofibromatosis syndrome 1
    • Neurofibromatosis-Noonan syndrome 601321
    • Neurofibromatosis-Noonan Syndrome
    • Noonan syndrome

    Green NF1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Neurofibromatosis, type 1

    Green NF1 in Mosaic skin disorders


    Level 2: Dermatological disorders
    Version 1.14

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • NHS GMS
    Phenotypes
    • Neurofibromatosis type I, MIM#162200
    Tags
    • somatic

    Green NF1 in Fetal anomalies


    Version 1.314

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurofibromatosis, type 1, MIM# 162200
    • Neurofibromatosis-Noonan syndrome, MIM# 601321

    Red NF1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Neurofibromatosis, type 1, MIM# 162200
    Tags
    • for review

    Green NF1 in Facial papules


    Level 2: Dermatological disorders
    Version 1.0

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • neurofibromatosis type 1 MONDO:0018975

    Green NF1 in Schwannoma


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Schwannoma, MONDO:0002546
    • Neurofibromatosis type 1, MONDO:0018975
    • Neurofibromatosis, type 1, MIM#162200

    Green NF1 in Sarcoma soft tissue


    Level 2: Cancer Predisposition
    Version 1.0

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Soft tissue sarcoma, MONDO:0018078
    • Sarcoma, MONDO:0005089
    • Neurofibromatosis type 1, MONDO:0018975
    • Neurofibromatosis, type 1, MIM#162200

    Green NF1 in Paraganglioma_phaeochromocytoma


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Paraganglioma, MONDO:0000448
    • Pheochromocytoma, MONDO:0008233
    • Neurofibromatosis type 1, MONDO:0018975
    • Neurofibromatosis, type 1, MIM#162200

    Green NF1 in Gastrointestinal Stromal Tumour


    Level 2: Cancer Predisposition
    Version 1.0

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Gastrointestinal stromal tumor, MONDO:0011719
    • Neurofibromatosis type 1, MONDO:0018975
    • Neurofibromatosis, type 1, MIM#162200

    Green NF1 in Breast Cancer


    Level 2: Cancer Predisposition
    Version 1.1

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Breast cancer, MONDO:0007254
    • Neurofibromatosis type 1, MONDO:0018975
    • Neurofibromatosis, type 1, MIM#162200