Activity

Filter

Cancel
Date Panel Item Activity
9 actions
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 MECOM Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: MECOM.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 MECOM Sarah Leigh reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 MECOM Achchuthan Shanmugasundram Source NHS GMS was added to MECOM.
Source Expert Review Green was added to MECOM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.152 MECOM Achchuthan Shanmugasundram Classified gene: MECOM as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v4.152 MECOM Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Boaz Palterer, there are more than three unrelated cases with either B cell deficiency and/ or hypogammaglobulinemia. Hence, this gene can be promoted to green rating in the next GMS review.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.152 MECOM Achchuthan Shanmugasundram Gene: mecom has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v4.151 MECOM Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: MECOM.
Primary immunodeficiency or monogenic inflammatory bowel disease v4.151 MECOM Achchuthan Shanmugasundram reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v4.22 MECOM Boaz Palterer gene: MECOM was added
gene: MECOM was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MECOM were set to 37407873
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738; Hypocellular bone marrow; congenital thrombocytopenia; B-cell lymphopenia; hypogammaglobulinemia; radioulnar synostosis; digit abnormalities; clubfoot; cardiac defects; facial dysmorphism
Penetrance for gene: MECOM were set to unknown
Review for gene: MECOM was set to GREEN
Added comment: Bone marrow failure syndrome included in the 2022 IUIS IEI classification. A subset of patients presents B cell deficiency and hypogammaglobulinemia. The phenotype is relevant for the panel.
Sources: Literature