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 1.35

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
  • 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 1.28

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 2.17
Latest signed off version: v2.5 (4 Mar 2020)

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 1.10
Latest signed off version: v1.4 (15 Oct 2020)

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 - teen and adult

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.21
Latest signed off version: v2.11 (15 Oct 2020)

Component of the following Super Panels:

  • Sudden cardiac death
  • 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 1.70

    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 1.14

    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 2.9
    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 1.649
    Latest signed off version: v1.92 (21 Aug 2020)

    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 2.13
    Latest signed off version: v2.2 (13 Feb 2020)

    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 2.27
    Latest signed off version: v2.2 (13 Feb 2020)

    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 1.385

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

    Green RAF1 in Growth failure in early childhood


    Version 1.67
    Latest signed off version: v1.4 (3 Mar 2020)

    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 3.1083
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.75

    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 2.12
    Latest signed off version: v2.2 (2 Mar 2020)

    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 1.42
    Latest signed off version: v1.4 (19 Feb 2020)

    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 NOT PMP22 copy number


    Version 1.25
    Latest signed off version: v1.2 (27 Feb 2020)

    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 1.77

    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