SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1
OMIM: 182530, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green SOS1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.430

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 4, MIM# 610733

Green SOS1 in Hydrops fetalis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.324

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 4
  • #MIM:610733

Green SOS1 in Macrocephaly_Megalencephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.149

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

Green SOS1 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Fibromatosis, gingival, 1, 135300
  • Noonan syndrome 4, 610733

Green SOS1 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

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

Green SOS1 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 4, MIM# 610733

Green SOS1 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 0.540

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

Green SOS1 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Noonan syndrome 4, MIM# 610733

Red SOS1 in Vascular Malformations_Germline


Level 2: Cardiovascular disorders
Version 1.12

Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Noonan syndrome 4 610733
    Tags
    • somatic

    Green SOS1 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 4 610733

    Amber SOS1 in Vascular Malformations_Somatic


    Level 2: Cardiovascular disorders
    Version 1.14

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Expert list
    • Expert list
    Phenotypes
    • Noonan syndrome 4 610733

    Green SOS1 in Cardiomyopathy_Paediatric


    Level 2: Cardiovascular disorders
    Version 0.196

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • NHS GMS
    • Expert Review Green
    • Expert List
    • London South GLH
    Phenotypes
    • Noonan syndrome
    • Noonan syndrome 4
    • Noonan syndrome 4 610733
    • syndromic HCM

    Green SOS1 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 4, MIM# 610733

    Green SOS1 in Fetal anomalies


    Version 1.314

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Noonan syndrome 4, MIM# 610733