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Haematological malignancies for rare disease

Gene: SH2B3

Amber List (moderate evidence)
SH2B3 (SH2B adaptor protein 3)
EnsemblGeneIds (GRCh38): ENSG00000111252
EnsemblGeneIds (GRCh37): ENSG00000111252
OMIM: 605093, Gene2Phenotype
SH2B3 is in 5 panels

3 reviews

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

"Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi‐organ autoimmunity" paper describe two novel and mention one previously derscribed case with biallelic SH2B3 variants.
Created: 16 Nov 2024, 1:56 p.m. | Last Modified: 16 Nov 2024, 1:56 p.m.
Panel Version: 1.18

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
myeloproliferation and multi‐organ autoimmunity

Publications

Created: 16 Nov 2024, 1:56 p.m.
Last Modified: 16 Nov 2024, 1:56 p.m.
Panel version: 1.18

Ellen McDonagh (Genomics England Curator)

Comment on publications: PMID: 23908464 - key point "SH2B3 is a recessive tumor suppressor gene with germline and somatic mutations in ALL".
Created: 30 Jan 2018, 11:53 a.m.
Comment on list classification: Demoted to amber after discussion with Clare Turnbull - does not seem to be enough evidence for this gene currently, and unclear mode of inheritance.
Created: 30 Jan 2018, 11:51 a.m.
Comment on mode of inheritance: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3790510/
Created: 24 Jan 2018, 1:42 p.m.
Created: 24 Jan 2018, 1:42 p.m.

Panel version: Imported from Haematological malignancies pertinent cancer susceptibility panel version 0.13

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Created: 26 Jul 2017, 11:15 a.m.

Panel version: Imported from Haematological malignancies pertinent cancer susceptibility panel version 0.8

Details

Mode of Inheritance
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
OMIM
605093
Clinvar variants
Variants in SH2B3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Aug 2018, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.

10 Apr 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SH2B3 was added to Haematological malignancies for rare disease panel. Sources: Expert Review Amber,Curated sources

10 Apr 2018, Gel status: 2

Created

Ellen McDonagh (Genomics England Curator)

SH2B3 was created by Ellen McDonagh