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Primary immunodeficiency or monogenic inflammatory bowel disease v9.41 MYB Achchuthan Shanmugasundram Classified gene: MYB as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v9.41 MYB Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated patients with heterozygous SNVs in Myb gene and functional evidence including mouse models available from peer-reviewed published scientific literature in support of the association of Myb with combined immunodeficiency. Hence, this gene can be promoted to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.41 MYB Achchuthan Shanmugasundram Gene: myb has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v9.40 MYB Achchuthan Shanmugasundram Phenotypes for gene: MYB were changed from Evans syndrome; Neutropenia; Autoimmune cytopenias; B cell lymphopenia to combined immunodeficiency, MONDO:0015131
Primary immunodeficiency or monogenic inflammatory bowel disease v9.39 MYB Achchuthan Shanmugasundram Mode of inheritance for gene: MYB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v9.38 MYB Achchuthan Shanmugasundram Publications for gene: MYB were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v9.37 MYB Achchuthan Shanmugasundram Tag Q3_26_promote_green tag was added to gene: MYB.
Primary immunodeficiency or monogenic inflammatory bowel disease v9.37 MYB Achchuthan Shanmugasundram reviewed gene: MYB: Rating: GREEN; Mode of pathogenicity: None; Publications: 20130238, 27577878, 29654210, 36168523; Phenotypes: combined immunodeficiency, MONDO:0015131; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 MYB Boaz Palterer gene: MYB was added
gene: MYB was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: MYB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MYB were set to Evans syndrome; Neutropenia; Autoimmune cytopenias; B cell lymphopenia
Penetrance for gene: MYB were set to Incomplete
Review for gene: MYB was set to GREEN
Added comment: Aaron Boothby et al. presented ten heterozygous germline MYB variants in seven families and four unrelated singletons. The variants segregated with autoimmune cytopenias, including Evans syndrome, in three five-generation pedigrees. In our cohort of 41 carriers, 22 were affected by autoimmune cytopenias, while one had isolated B cell lymphopenia and neutropenia.

https://rupress.org/jhi/article/2/CIS2026/eCIS2026abstract.16/281957/MYB-Haploinsufficiency-Causes-Familial-Autoimmune
Sources: Literature