SH2B3

SH2B adaptor protein 3
OMIM: 605093, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber SH2B3 in Hereditary Erythrocytosis

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 2.6
Latest signed off version: v2.0 (22 Mar 2023)

review Other
Sources
  • Expert Review Amber
  • Expert list
  • NHS GMS
Phenotypes
  • Erythrocytosis, somatic, OMIM:133100
Tags
  • somatic
Amber SH2B3 in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Curated sources
  • Expert Review Amber
  • Expert Review Amber
Phenotypes
  • Class: familial predisp to leukaemia (typ AD)
  • SH2B3-related familial ALL
  • ALL
  • Autoimmunity
  • No other known cancer risks
No list SH2B3 in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.27

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Susceptibility to ALL
Tags
  • curated_removed
Amber SH2B3 in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 4.5
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Curated sources
Phenotypes
  • Class: familial predisp to leukaemia (typ AD)
  • SH2B3-related familial ALL
  • ALL
  • Autoimmunity
  • No other known cancer risks
Amber SH2B3 in Thrombocythaemia

Level 3: Haemostasis disorders
Level 2: Haematological disorders
Version 1.5
Latest signed off version: v1.1 (30 Sep 2020)

review Other
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Thrombocythemia, somatic, 187950
Tags
  • somatic