SH2B3

SH2B adaptor protein 3
OMIM: 605093, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber SH2B3 in Haematological malignancies


Level 2: Cancer susceptibility
Version 0.148

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Curated sources
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmunity
  • No other known cancer risks
  • Class: familial predisp to leukaemia (typ AD)
  • SH2B3-related familial ALL
  • ALL

Green SH2B3 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.9

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Predisposition to haematological malignancies
    • Myeloproliferation and multi-organ autoimmunity
    • juvenile myelomonocytic leukemia MONDO:0011908, SH2B3-related

    Green SH2B3 in Mendeliome


    Version 2.588

    2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Predisposition to haematological malignancies
    • Myeloproliferation and multi-organ autoimmunity
    • juvenile myelomonocytic leukemia MONDO:0011908, SH2B3-related

    Green SH2B3 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 1.2

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Predisposition to haematological malignancies

    Green SH2B3 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 2.11

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 3 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Predisposition to haematological malignancies
    • Myeloproliferation and multi-organ autoimmunity
    • juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related

    Amber SH2B3 in Red cell disorders


    Level 2: Haematological disorders
    Version 2.4

    1 review Other
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Erythrocytosis, somatic, MIM# 133100
    Tags
    • somatic