Genes in panel
STRs in panel
Prev Next

Limb disorders

Gene: MECOM

Green List (high 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)

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

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 Green
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
  • radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MONDO:0014758
OMIM
165215
Clinvar variants
Variants in MECOM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Mar 2022, Gel status: 3

Removed Tag, Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q3_21_rating was removed from gene: MECOM. Tag Q3_21_NHS_review was removed from gene: MECOM.

5 Mar 2022, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source Expert Review Green was added to MECOM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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