1. Genes and Genomic Entities
  2. RAF1

RAF1

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

20 panels

Panel Reviews Mode of inheritance Details
20 panels
Green RAF1 in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.69

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 1.32

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • UKGTN
  • 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 1.64

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 Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

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 3.12
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • NS5
  • Noonan syndrome with lentigines (LEOPARD)
  • LEOPARD SYNDROME 2
  • Noonan syndrome
  • LPRD2, NOONAN SYNDROME 5
Red RAF1 in Hypertrophic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 4.9
Latest signed off version: v4.8 (1 May 2024)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  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 1.85

    		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 1.27

    		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 2.29
    Latest signed off version: v2.2 (18 Feb 2020)

    		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 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		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 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Not set
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Proportionate Short Stature/Small for Gestational Age
    Tags
    • curated_removed
    Green RAF1 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  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 1.478

    		review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Cardiomyopathy
    Green RAF1 in Growth failure in early childhood


    Version 3.95
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • LEOPARD syndrome 2, OMIM:611554
    • Noonan syndrome 5, OMIM:611553
    Green RAF1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  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 1.81

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Eligibility statement prior genetic testing
    • UKGTN
    Phenotypes
    • LEOPARD syndrome 2 611554
    • Noonan syndrome 5 611553
    Green RAF1 in Primary lymphoedema

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 3.11
    Latest signed off version: v3.0 (30 Nov 2022)

    		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 Paediatric or syndromic cardiomyopathy


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • 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
    Red RAF1 in Hereditary neuropathy or pain disorder


    Version 4.8
    Latest signed off version: v4.0 (1 May 2024)

    		review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Emory Genetics Laboratory
    • NHS GMS
    • South West GLH
    Phenotypes
    • Cardiomyopathy
    Green RAF1 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Noonan syndrome 5, 611553
    • Cardiomyopathy, dilated, 1NN, 615916
    • LEOPARD syndrome 2, 611554