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Limb disorders

Gene: MECOM

Amber List (moderate evidence)

MECOM (MDS1 and EVI1 complex locus)
EnsemblGeneIds (GRCh38): ENSG00000085276
EnsemblGeneIds (GRCh37): ENSG00000085276
OMIM: 165215, Gene2Phenotype
MECOM is in 7 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

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

Ellen Thomas (Genomics England Curator)

I don't know

On bleeding disorders panels but also reported to have limb phenotypes in some patients
Sources: Other
Created: 10 Mar 2021, 10:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Radioulnar synostosis; Brachymesophalangia

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
  • radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MONDO:0014758
Tags
Q3_21_rating Q3_21_NHS_review
OMIM
165215
Clinvar variants
Variants in MECOM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2021, Gel status: 2

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_NHS_review tag was added to gene: MECOM.

18 Aug 2021, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: mecom has been classified as Amber List (Moderate Evidence).

18 Aug 2021, Gel status: 0

Set Phenotypes

Eleanor Williams (Genomics England Curator)

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

18 Aug 2021, Gel status: 0

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: MECOM were set to

18 Aug 2021, Gel status: 0

Added Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_rating tag was added to gene: MECOM.

10 Mar 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen Thomas (Genomics England Curator)

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