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Fetal anomalies

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

at least 10 families reported for syndromic features with variants clustering in the zinc finger domain 2
Created: 17 Jan 2022, 1:28 a.m. | Last Modified: 17 Jan 2022, 1:28 a.m.
Panel Version: 0.2343

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MIM#616738

Publications

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

Details

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

History Filter Activity

20 Jan 2022, 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).

20 Jan 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MECOM were changed from Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 MIM#616738

20 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MECOM were set to

20 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: MECOM was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Jan 2022, 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).

24 Oct 2021, Gel status: 2

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 Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MECOM were set to Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia