RAF1

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

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green RAF1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Red RAF1 in Hypertrophic cardiomyopathy_HCM


Level 2: Cardiovascular disorders
Version 0.178

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Cardiomyopathy, dilated, 1NN MIM#615916
    • Noonan syndrome 5 MIM#611553

    Green RAF1 in Hydrops fetalis


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.313

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Noonan syndrome 5, MIM# 611553

    Green RAF1 in Macrocephaly_Megalencephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.140

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green RAF1 in Mendeliome


    Version 1.1902

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Noonan syndrome 5, MIM# 611553
    • Cardiomyopathy, dilated, 1NN, MIM# 615916

    Green RAF1 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green RAF1 in Rasopathy


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.105

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Noonan syndrome 5, MIM# 611553

    Green RAF1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.522

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green RAF1 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.194

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Noonan Syndrome with Multiple Lentigines, OMIM # 611554

    Green RAF1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Red RAF1 in TCGA_PANCAN_2018


    Version 0.2

    review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • LEOPARD syndrome 2
    • Noonan syndrome 5

    Green RAF1 in Lymphoedema_syndromic

    Level 3: Lymphatic Disorders
    Level 2: Cardiovascular disorders
    Version 0.12

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • 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 Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.192

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    • Expert List
    • London South GLH
    Phenotypes
    • Cardiomyopathy, dilated, 1NN, MIM# 615916
    • Noonan syndrome 5, MIM# 611553

    Green RAF1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Noonan syndrome

    Green RAF1 in Growth failure


    Version 1.76

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Noonan syndrome 5, MIM# 611553

    Green RAF1 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Noonan syndrome 5, MIM# 611553

    Red RAF1 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Noonan syndrome 5, MIM# 611553