1. Panels
  2. DDG2P
  3. AGO1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: AGO1

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for AGO1-related developmental disorder are strong, monoallelic_autosomal and undetermined (PMID:35060114). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02852.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease AGO1-related developmental disorder (monoallelic) is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:35060114).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

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

Phenotypes
AGO1-related developmental disorder (monoallelic); AGO1-related developmental disorder; OMIM:620292.0; MONDO:0859531

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • AGO1-related developmental disorder (monoallelic)
OMIM
606228
Clinvar variants
Variants in AGO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: AGO1 was changed from Other to None

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: AGO1 was added gene: AGO1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AGO1 were set to 35060114 Phenotypes for gene: AGO1 were set to AGO1-related developmental disorder (monoallelic) Mode of pathogenicity for gene: AGO1 was set to Other