SH2B3

SH2B adaptor protein 3
OMIM: 605093, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green SH2B3 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.0

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 2.0

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 1.0

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 2.0

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 2.0

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