IBMDx study

Gene: MECOM

Green List (high evidence)

PMID: 29146883; 5 unrelated individuals with heamatological defects without RUS. de novo variants cause severe aplastic anemia (AA) occuring within the first months of life that requries hematopoietic stem cel transplatation (HSCT).
Mutational spectrum: 1 missense, 2 frameshifts, 1 nonsense and 1 splice

Created: 14 May 2020, 11:21 p.m. | Last Modified: 17 May 2020, 9:34 p.m.

Panel Version: 0.60

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
bone marrow failure without radioulnar synostosis (RUS)

Publications

• PMID: 29146883

Green List (high evidence)

Disease mechanism currently unknown - at least 5 missense reported in the literature to date. Niihori, T. et al. (2015) suggests the possibility of LoF, GoF, dominant negative, or a combination of mechanisms relating to different functions of the protein.
Pathogenic missense cluster in C2H2-type zinc fingers 8 & 9 (PMID: 26581901, PMID: 29519864).

Created: 2 Apr 2020, 6:01 a.m. | Last Modified: 2 Apr 2020, 6:01 a.m.

Panel Version: 0.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, 616738

Publications

• 26581901
• 29519864

Mode of pathogenicity
Other

Green List (high evidence)

Multiple affected families reported, syndromic features tend to cluster with mutations in a particular domain. Non-syndromic presentations well described.
Sources: Expert Review

Created: 18 Nov 2019, 12:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738

Publications

• 26581901

Variants in this GENE are reported as part of current diagnostic practice