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  3. SH2B3
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Cancer Predisposition_Paediatric

Gene: SH2B3

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

1 review

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Germline variants are associated with predisposition to haematological malignancies (PMIDs: 26457647, 23908464, 31102422, 31173385).
Created: 24 Jul 2020, 12:44 a.m. | Last Modified: 24 Jul 2020, 12:44 a.m.
Panel Version: 0.18

Mode of inheritance
Other

Phenotypes
Predisposition to haematological malignancies

Publications

Created: 24 Jul 2020, 12:44 a.m.
Last Modified: 24 Jul 2020, 12:44 a.m.
Panel version: 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Predisposition to haematological malignancies
OMIM
605093
Clinvar variants
Variants in SH2B3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SH2B3 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sh2b3 has been classified as Green List (High Evidence).

24 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SH2B3 were changed from to Predisposition to haematological malignancies

24 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SH2B3 were set to

24 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SH2B3 was changed from Unknown to Other

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SH2B3 was added gene: SH2B3 was added to Paediatric Cancer Predisposition_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SH2B3 was set to Unknown