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Limb disorders

Gene: MECOM

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

1 review

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
Phenotypes
  • Radioulnar synostosis
  • Brachymesophalangia
OMIM
165215
Clinvar variants
Variants in MECOM
Penetrance
None
Panels with this gene

History Filter Activity

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