Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MECOM
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.Created: 5 Jan 2024, 6:33 p.m. | Last Modified: 5 Jan 2024, 6:33 p.m.
Panel Version: 4.152
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
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: LiteratureCreated: 14 Jul 2023, 6:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
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
Publications
Gene: mecom has been classified as Amber List (Moderate Evidence).
Tag Q4_23_promote_green tag was added to gene: MECOM.
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