Inherited bleeding 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 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • transcription factor and gives the same pathology (thrombocytopenia with bone defects) as HOXA11
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
OMIM
165215
Clinvar variants
Variants in MECOM
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Louise Daugherty (Genomics England Curator)

MECOM was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MECOM was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MECOM was created by ellenmcdonagh