NF1

neurofibromin 1
OMIM: 613113, Gene2Phenotype

30 panels

Panel Reviews Mode of inheritance Details
30 panels

Green NF1 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
  • Neurofibromatosis
  • JMML, AML
  • Optic glioma, malignant peripheral nerve sheath tumor

Green NF1 in Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neurofibromatosis, type 1, 162200
  • Leukemia, juvenile myelomonocytic, 607785
  • Melanoma, desmoplastic neurotrophic (2)
  • Neurofibromatosis, familial spinal, 162210
  • Neurofibromatosis-Noonan syndrome, 601321
  • Neurofibromatosis, Type 1
  • Neurofibromatosis, Type I
  • (originally on Familial schwannomatosis gene panel)

Green NF1 in Neurofibromatosis Type 1

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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Neurofibromatosis, familial spinal
  • Familial Spinal Neurofibromatosis
  • Neurofibromatosis, type 1
  • Neurofibromatosis-Noonan syndrome
  • Watson syndrome, 162200

Green NF1 in Adult solid tumours for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.22

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

Amber NF1 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.70

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert list
Phenotypes
  • Moyamoya disease
  • Neurofibromatosis, type 1 162200

Red NF1 in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.6

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

Green NF1 in Hydrocephalus


Version 2.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Neurofibromatosis, type 1

Green NF1 in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.4

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurofibromatosis, type 1 162200

Green NF1 in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 1.36

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neurofibromatosis-Noonan syndrome, 601321
  • Leukemia, juvenile myelomonocytic, 607785
  • Neurofibromatosis, Type I
  • Neurofibromatosis-Noonan syndrome 601321
  • Watson syndrome, 193520
  • Neurofibromatosis, type 1, 162200
  • Neurofibromatosis, familial spinal, 162210
  • Neurofibromatosis, Type 1
  • Melanoma, desmoplastic neurotrophic (2)
  • Neurofibromatosis, type 1 162200

Green NF1 in Tumour predisposition - adult onset


Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Adult solid tumours for rare disease (Version 1.21)
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Melanoma, desmoplastic neurotrophic (2)
  • (originally on Familial schwannomatosis gene panel)
  • Neurofibromatosis, familial spinal, 162210
  • Neurofibromatosis-Noonan syndrome, 601321
  • Neurofibromatosis, Type I
  • Leukemia, juvenile myelomonocytic, 607785
  • Neurofibromatosis, Type 1
  • Neurofibromatosis, type 1, 162200
  • Neurofibromatosis

Red NF1 in Inherited predisposition to GIST


Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS

Green NF1 in Pigmentary skin disorders


Version 0.23

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Neurofibromatosis type I

Green NF1 in Inherited phaeochromocytoma and paraganglioma

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • NF1

Red NF1 in Cytopenias and congenital anaemias

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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • BRIDGE consortium (NIHRBR-RD)
Phenotypes
  • Myelodysplastic syndrome (MDS), Paediatric
  • 162200

Green NF1 in Mosaic skin disorders - deep sequencing


Version 0.19

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Neurofibromatosis type I

No list NF1 in Multiple monogenic benign skin tumours


Version 0.14

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • London North GLH
  • NHS GMS
Phenotypes
  • Neurofibromatosis type I

Amber NF1 in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.15

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Expert Review Amber
  • Expert Review Red
Phenotypes
  • Neurofibromatosis, type 1 162200

Green NF1 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
  • Neurofibromatosis

Green NF1 in Adult solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.7

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

Green NF1 in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.20

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: Ras-opathy
  • Neurofibromatosis
  • JMML, AML
  • Optic glioma, malignant peripheral nerve sheath tumor

Green NF1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.254

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Neurofibromatosis, type 1 162200
  • Neurofibromatosis, type 1 162200
  • Neurofibromatosis, familial spinal 162210
  • Neurofibromatosis-Noonan syndrome 601321
  • Neurofibromatosis, familial spinal 162210
  • Neurofibromatosis-Noonan syndrome 601321

Green NF1 in Fetal anomalies


Version 0.371

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

Green NF1 in DDG2P


Version 1.176

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • WATSON SYNDROME 193520
  • NEUROFIBROMATOSIS TYPE 1 162200
  • NEUROFIBROMATOSIS-NOONAN SYNDROME 601321
  • FAMILIAL SPINAL NEUROFIBROMATOSIS 162210

Red NF1 in Hearing loss

Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 2.4

review Not set
Sources
  • Expert

Green NF1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.1135

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neurofibromatosis, type 1, 162200Leukemia, juvenile myelomonocytic, 607785Melanoma, desmoplastic neurotrophic (2)Neurofibromatosis, familial spinal, 162210Neurofibromatosis-Noonan syndrome, 601321Watson syndrome, 193520
  • NEUROFIBROMATOSIS-NOONAN SYNDROME (NFNS)

Green NF1 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
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neurofibromatosis-Noonan syndrome 601321
  • Neurofibromatosis, type 1 162200

Green NF1 in Primary lymphoedema

Level 3: Lymphatic Disorders
Level 2: Cardiovascular disorders
Version 2.0

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

Amber NF1 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
  • Congenital or cystic renal disease
  • MIM 162200
  • Neurofibromatosis type 1

Green NF1 in Sarcoma susceptibility


Version 0.10

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
  • Expert Review Amber
  • Expert Review Red
Phenotypes
  • Neurofibromatosis, type 1 162200

Green NF1 in Cardiomyopathies - including childhood onset


Version 0.54

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