PanelApp (test)
  1. Genes and Genomic Entities
  2. NF1:Ensemblv90

NF1:Ensemblv90

neurofibromin 1
OMIM: 613113, ClinGen, DECIPHER

44 panels

Panel Reviews Mode of inheritance Details
44 panels

Green NF1 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.233

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

Green NF1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.511

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

Green NF1 in Hydrocephalus_Ventriculomegaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.132

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

Green NF1 in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.4

2 reviews 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 0.153

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

Green NF1 in Mendeliome


Version 1.3802

2 reviews 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 0.132

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

Green NF1 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 0.178

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

Green NF1 in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.111

1 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 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 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 0.578

    		0 reviews 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 1.508

    		1 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 0.365

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

    Red NF1 in CGC_86


    Version 0.3

    		0 reviews Other
    Sources
    • CGC_86
    Phenotypes
    • Neurofibromatosis, type 1

    Red NF1 in NCGC


    Version 0.3

    		0 reviews Other
    Sources
    • NCGC
    Phenotypes
    • Neurofibromatosis, type 1

    Red NF1 in TCGA_PANCAN_2018


    Version 0.3

    		0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Neurofibromatosis, type 1

    Green NF1 in Pulmonary Arterial Hypertension


    Level 2: Cardiovascular disorders
    Version 1.50

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

    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

    		•  0 reviews 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 1.38

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

    Green NF1 in Schwannomatosis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.17

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurofibromatosis, type 1 MIM#162200

    Green NF1 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.9

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • Vascular Malformations SuperPanel

    		•  4 reviews 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 0.208

    		0 reviews 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

    		0 reviews 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 1.15

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel

    		•  2 reviews 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 1.482

    		2 reviews 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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		2 reviews 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

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

    Green NF1 in Autism


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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

    Green NF1 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 1.0

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

    Green NF1 in Hydrocephalus_Ventriculomegaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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

    Green NF1 in Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 2.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    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 1.0

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

    Green NF1 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 1.0

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

    Green NF1 in Pulmonary Fibrosis_Interstitial Lung Disease


    Level 2: Respiratory disorders
    Version 1.0

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

    Green NF1 in Rasopathy


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.0

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

    Green NF1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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

    Green NF1 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
    • Genetic Health Queensland
    • Expert Review Green
    Phenotypes
    • Neurofibromatosis, type 1 (MIM#162200)

    Green NF1 in Skeletal dysplasia

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

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Emory Genetics Laboratory
    • Expert list
    • NHS GMS
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    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 Pulmonary Arterial Hypertension


    Level 2: Cardiovascular disorders
    Version 2.0

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

    Green NF1 in Lymphoedema_syndromic

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

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

    Green NF1 in Schwannomatosis


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Neurofibromatosis, type 1 MIM#162200

    Green NF1 in Cerebral vascular malformations


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

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

    Green NF1 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 1.0

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

    Green NF1 in Facial papules


    Level 2: Dermatological disorders
    Version 2.0

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