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  3. SH2B3
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Bone Marrow Failure

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID:37206266
2x families
- hom missense variant Val402Met:
functional performed on patient's fibroblasts demonstrated increased basal pSTAT5, pSTAT3 and increased pJAK2 + pSTAT5 after stimulation with IL-3, GH, GM-CSF and EPO

- hom fs Arg148Profs*40
functional performed in zebrafish demonstrated increased number of macrophages and thrombocytes

PMID:23908464;
1 fam with 2 affecteds with dev delay + autoimmunity + (1x) ALL, hom for Asp231Gly fs*3

PMID:38152053;
JMML cohort - 2x hom missense + 2x het PTCs
Sources: Literature
Created: 1 Feb 2024, 12:33 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Feb 2024, 12:33 a.m.

Panel version: 1.85

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Predisposition to haematological malignancies
  • Myeloproliferation and multi-organ autoimmunity
  • juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related
OMIM
605093
Clinvar variants
Variants in SH2B3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

1 Feb 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

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

1 Feb 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

gene: SH2B3 was added gene: SH2B3 was added to Bone Marrow Failure. Sources: Literature Mode of inheritance for gene: SH2B3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SH2B3 were set to 37206266; 23908464; 38152053; 37206266; 38152053 Phenotypes for gene: SH2B3 were set to Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related Review for gene: SH2B3 was set to GREEN gene: SH2B3 was marked as current diagnostic