Bone Marrow Failure
Gene: SH2B3
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: LiteratureCreated: 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
Phenotypes for gene: SH2B3 were changed from Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related to Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:0011908, SH2B3-related
Gene: sh2b3 has been classified as Green List (High Evidence).
Gene: sh2b3 has been classified as Green List (High Evidence).
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