Limb disorders
Gene: MECOM
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 5 Mar 2022, 8:41 p.m. | Last Modified: 5 Mar 2022, 8:41 p.m.
Panel Version: 2.71
Comment on list classification: Promoting from grey to amber, with a recommendation for green rating following GMS review. There are sufficient cases with a radioulnar synostosis phenotype to rate this gene green.Created: 18 Aug 2021, 1:30 p.m. | Last Modified: 18 Aug 2021, 1:30 p.m.
Panel Version: 2.54
Associated with Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 #616738 (AD) in OMIM.
PMID: 26581901 - Niihori et al 2015 - WES in a patient with Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) and her parents identified a de novo missense variant in MECOM. Later analysis of MECOM in two other individuals with RUSAT revealed two additional different missense mutations. All 3 individuals presented with bilateral radioulnar synostosis as well as finger abnormalities (brachymesophalangia, clinodactyly, overlapping fingers).
PMID: 29200407 - Lord et al 2018 - report an African American child in which radioulnar synostosis was noted, and who went on to develop amegakaryocytic thrombocytopenia in early infancy. A missense de novo variant in MECOM NM_001105078.3:c.2248C>T, p.(Arg750Trp) was identified in the patient, and was found to be absent in the parents.
PMID: 30536840 - Loganathan et al 2019 - report a child who presented at birth with presented at birth with ecchymoses, pallor, respiratory failure, shock, and seizures. Checkup at 4 months recorded persisting anemia with severe thrombocytopenia and X-ray of both forearms showed superior radioulnar synostosis. A novel heterozygous missense variation in MECOM was identified in the patient, but also in the unaffected father, but not the mother, suggesting variable penetrance.Created: 18 Aug 2021, 1:19 p.m. | Last Modified: 18 Aug 2021, 1:19 p.m.
Panel Version: 2.51
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738; radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MONDO:0014758
Publications
On bleeding disorders panels but also reported to have limb phenotypes in some patients
Sources: OtherCreated: 10 Mar 2021, 10:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Radioulnar synostosis; Brachymesophalangia
Phenotypes for gene: MECOM were changed from Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738; radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MONDO:0014758 to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
Tag Q3_21_rating was removed from gene: MECOM. Tag Q3_21_NHS_review was removed from gene: MECOM.
Source Expert Review Green was added to MECOM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q3_21_NHS_review tag was added to gene: MECOM.
Gene: mecom has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MECOM were changed from Radioulnar synostosis; Brachymesophalangia to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738; radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MONDO:0014758
Publications for gene: MECOM were set to
Tag Q3_21_rating tag was added to gene: MECOM.
gene: MECOM was added gene: MECOM was added to Limb disorders. Sources: Other Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MECOM were set to Radioulnar synostosis; Brachymesophalangia Review for gene: MECOM was set to AMBER