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Test MOI validation panel - do not edit

Gene: ABO

Green List (high evidence)
ABO (ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000175164
EnsemblGeneIds (GRCh37): ENSG00000175164
OMIM: 110300, Gene2Phenotype
ABO is in 1 panel

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM test - monoallelic but associated with disorder with no inheritance given in OMIM
OMIM
110300
Clinvar variants
Variants in ABO
Penetrance
None
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

20 Oct 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: ABO was added gene: ABO was added to TEST mode of inheritance validation panel. Sources: Literature Mode of inheritance for gene: ABO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ABO were set to OMIM test - monoallelic but associated with disorder with no inheritance given in OMIM