SH2B3

SH2B adaptor protein 3
OMIM: 605093, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber SH2B3 in Hereditary Erythrocytosis Level 2: Haematology Version 2.17 Latest signed off version: v2.0 (22 Mar 2023)	review	Other	Sources Expert Review Amber Expert list NHS GMS Phenotypes Erythrocytosis, somatic, OMIM:133100 Myelofibrosis, somatic, OMIM:254450 Thrombocythemia, somatic, OMIM:187950 Tags somatic
Amber SH2B3 in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	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 1.30	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 2: Cancer susceptibility Version 4.37 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 Tags Q2_25_ promote_green
Green SH2B3 in Thrombocythaemia Level 2: Haematology Version 1.12 Latest signed off version: v1.1 (30 Sep 2020)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Thrombocythemia, somatic, OMIM:187950 Tags somatic