RAF1

Raf-1 proto-oncogene, serine/threonine kinase
OMIM: 164760, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green RAF1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Rasopathy

Green RAF1 in Neurofibromatosis Type 1

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

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Literature
  • Expert Review
Phenotypes
  • Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100

Green RAF1 in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.16

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
Phenotypes
  • Noonan syndrome
  • Noonan syndrome 5
  • LEOPARD syndrome
  • LEOPARD syndrome 2

Green RAF1 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 Review Green
  • Expert List
Phenotypes
  • LEOPARD syndrome 2 611554
  • Noonan syndrome 5 611553

Green RAF1 in Pigmentary skin disorders


Version 0.15

Component of the following Super Panels:

  • Skin disorders v1.129
  • Combined Skin Superpanel v1.30
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Noonan syndrome
    • Noonan syndrome with lentigines (LEOPARD)

    Red RAF1 in Hypertrophic cardiomyopathy - teen and adult

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.77

    Component of the following Super Panels:

  • Merge for Cardiomyopathies - including childhood onset v3.193
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Expert list
    Phenotypes
    • syndromic HCM

    Red RAF1 in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.63

    Component of the following Super Panels:

  • Merge for Cardiomyopathies - including childhood onset v3.193
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH

    Green RAF1 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
    • Noonan syndrome

    Green RAF1 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
    Phenotypes
    • LEOPARD syndrome 2 611554
    • Noonan syndrome 5 611553

    Green RAF1 in Fetal anomalies


    Version 0.346

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NOONAN SYNDROME 5

    No list RAF1 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 2.0

    review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Proportionate Short Stature/Small for Gestational Age

    Green RAF1 in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NOONAN SYNDROME 5 611553

    Red RAF1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.337

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy

    Green RAF1 in Growth failure in early childhood


    Version 1.3

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Rasopathy
    • Noonan syndrome
    • LEOPARD syndrome 2
    • Noonan syndrome 5
    • LEOPARD syndrome

    Green RAF1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • White matter disorders - childhood onset v4.229
  • Hypotonic infant with a likely central cause v3.1049
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Noonan syndrome 5, 611553LEOPARD syndrome 2, 611554
    • NOONAN SYNDROME 5

    Green RAF1 in RASopathies

    Level 3: RASopathies
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.55

    Component of the following Super Panels:

  • Merge for Cardiomyopathies - including childhood onset v3.193
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • UKGTN
    • Eligibility statement prior genetic testing
    Phenotypes
    • LEOPARD syndrome 2 611554
    • Noonan syndrome 5 611553

    Green RAF1 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
    • Noonan syndrome 5 611553
    • LEOPARD syndrome 2 611554

    Green RAF1 in Cardiomyopathies - including childhood onset


    Version 0.13

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert List
    • South West GLH
    • London South GLH
    • Expert Review Green
    Phenotypes
    • Noonan syndrome 5
    • Noonan syndrome
    • Noonan syndrome 5 611553
    • LEOPARD syndrome 2 611554
    • syndromic HCM
    • LEOPARD syndrome
    • LEOPARD syndrome 2

    Green RAF1 in Sudden cardiac death


    Version 0.10

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London South GLH
    • Expert Review Green
    • London South GLH
    • Expert Review Green
    Phenotypes
    • Noonan syndrome
    • Noonan syndrome 5
    • syndromic HCM
    • LEOPARD syndrome
    • LEOPARD syndrome 2