SH2B3

SH2B adaptor protein 3
OMIM: 605093, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SH2B3 in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

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:001190, SH2B3-related

Green SH2B3 in Mendeliome


Version 1.1891

review 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:001190, SH2B3-related

Green SH2B3 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

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

Red SH2B3 in TCGA_PANCAN_2018


Version 0.2

review Other
Sources
  • TCGA_PANCAN_2018
Phenotypes
  • NA

Amber SH2B3 in Red cell disorders


Level 2: Haematological disorders
Version 1.24

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