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| Disorders of immune dysregulation v0.190 | SH2B3 | Zornitza Stark Marked gene: SH2B3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.190 | SH2B3 | Zornitza Stark Gene: sh2b3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.190 | SH2B3 | Zornitza Stark Phenotypes for gene: SH2B3 were changed from Immune to Predisposition to haematological malignancies; Myeloproliferation and multi-organ autoimmunity; juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.189 | SH2B3 | Zornitza Stark Classified gene: SH2B3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.189 | SH2B3 | Zornitza Stark Gene: sh2b3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.188 | SH2B3 | Zornitza Stark reviewed gene: SH2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Predisposition to haematological malignancies, Myeloproliferation and multi-organ autoimmunity, juvenile myelomonocytic leukemia MONDO:001190, SH2B3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.186 | SH2B3 |
Peter McNaughton gene: SH2B3 was added gene: SH2B3 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: SH2B3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SH2B3 were set to PMID: 37206266 Phenotypes for gene: SH2B3 were set to Immune Review for gene: SH2B3 was set to GREEN Added comment: 2x unrelated patients with haematopoietic manifestations with predominantly myeloproliferative features. Both patients developed clinically significant extra‐haematopoietic multi‐organ autoimmune manifestations throughout life including autoimmune hypothyroidism, autoimmune hepatitis, alopecia areata and autoimmune diabetes mellitus. Sources: Literature |
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