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Intellectual_disability

Gene: AGO1

Red List (low evidence)

AGO1 (argonaute 1, RISC catalytic component)
EnsemblGeneIds (GRCh38): ENSG00000092847
EnsemblGeneIds (GRCh37): ENSG00000092847
OMIM: 606228, Gene2Phenotype
AGO1 is in 3 panels

0 reviews

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Candidate gene (Grozeva et al, 2015)
Phenotypes
  • Intellectual disability
OMIM
606228
Clinvar variants
Variants in AGO1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

AGO1 was created by ellenmcdonagh

21 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AGO1 was added to Intellectual_disabilitypanel. Sources: Candidate gene (Grozeva et al, 2015)