Childhood solid tumours cancer susceptibility

Gene: SH2B3

No list

SH2B3 (SH2B adaptor protein 3)
EnsemblGeneIds (GRCh38): ENSG00000111252
EnsemblGeneIds (GRCh37): ENSG00000111252
OMIM: 605093, Gene2Phenotype
SH2B3 is in 3 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Removed this gene from the solid tumour panel after discussion with Clare Turnbull, as this is a susceptibility gene for ALL and not solid tumours.
30 Jan 2018, 10:57 a.m.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Susceptibility to ALL

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert list
Phenotypes
  • Susceptibility to ALL
OMIM
605093
Clinvar variants
Variants in SH2B3
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Sep 2018, Gel status: 0

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ellen McDonagh: Comment on list classification

30 Jan 2018, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

5 Jul 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SH2B3 was added to Childhood solid tumourspanel. Source: Expert Review Green

5 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SH2B3 was created by ellenmcdonagh

5 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SH2B3 was added to Childhood solid tumourspanel. Sources: Expert list