1. Panels
  2. Bleeding and Platelet Disorders
  3. MECOM
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Bleeding and Platelet 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 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Sources: Expert list
Created: 15 Aug 2020, 6:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738

Created: 15 Aug 2020, 6:33 a.m.

Panel version: 0.109

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738
OMIM
165215
Clinvar variants
Variants in MECOM
Penetrance
None
Panels with this gene

History Filter Activity

15 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mecom has been classified as Green List (High Evidence).

15 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mecom has been classified as Green List (High Evidence).

15 Aug 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MECOM was added gene: MECOM was added to Bleeding Disorders. Sources: Expert list Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738 Review for gene: MECOM was set to GREEN