Skeletal dysplasia

Gene: MECOM

Green List (high evidence)

Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
-Multiple affected families reported

Radioulnar synostosis (RUS) without hematological aberration
-8 families with RUS and no identifiable hematological abnormalities
-WES identified unique missense variants in MECOM
-6 families had variants in residue R781, 2 other variants included I783T and Q777E. All variants clustered within the ninth zinc finger motif of EVI1.
-Functional experiments showed that MECOM R781C led to alterations in TGF-β–mediated transcriptional responses.
Sources: Literature

Created: 16 May 2022, 12:43 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738; Radioulnar synostosis without hematological aberration, no OMIM #

Publications

• PMID: 35219593, 26581901, 29519864

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