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 0.474

1 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 0.328

1 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 0.151

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SOS1 in Mendeliome


Version 1.3512

2 reviews 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 0.132

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green SOS1 in Rasopathy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.108

1 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 0.565

0 reviews 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 1.410

1 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
  • 2 reviews 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
  • 0 reviews 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 1.16

    Component of the following Super Panels:

  • Vascular Malformations SuperPanel
  • 2 reviews 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 0.207

    0 reviews 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 1.83

    1 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 1.465

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