Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: MECOMEnsemblGeneIds (GRCh38): ENSG00000085276
EnsemblGeneIds (GRCh37): ENSG00000085276
OMIM: 165215, Gene2Phenotype
MECOM is in 7 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.Created: 3 May 2024, 8:36 p.m. | Last Modified: 3 May 2024, 8:36 p.m.
Panel Version: 5.3
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Achchuthan Shanmugasundram (Genomics England Curator)
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
Boaz Palterer (University of Florence)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- 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
- OMIM
- 165215
- Clinvar variants
- Variants in MECOM
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green was removed from gene: MECOM.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)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)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: mecom has been classified as Amber List (Moderate Evidence).
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_23_promote_green tag was added to gene: MECOM.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Boaz Palterer (University of Florence)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