Childhood solid tumours cancer susceptibility
Gene: SH2B3
SH2B3 (SH2B adaptor protein 3)
EnsemblGeneIds (GRCh38): ENSG00000111252
EnsemblGeneIds (GRCh37): ENSG00000111252
OMIM: 605093, Gene2Phenotype
SH2B3 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000111252
EnsemblGeneIds (GRCh37): ENSG00000111252
OMIM: 605093, Gene2Phenotype
SH2B3 is in 5 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.Created: 30 Jan 2018, 10:57 a.m.
Clare Turnbull (Queen Mary University London)
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
- Tags
- OMIM
- 605093
- Clinvar variants
- Variants in SH2B3
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: SH2B3.
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
Added New Source
Ellen McDonagh (Genomics England Curator)SH2B3 was added to Childhood solid tumourspanel. Sources: Expert list
5 Jul 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SH2B3 was created by ellenmcdonagh