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Intellectual disability

Gene: AGO2

Amber List (moderate evidence)

AGO2 (argonaute 2, RISC catalytic component)
EnsemblGeneIds (GRCh38): ENSG00000123908
EnsemblGeneIds (GRCh37): ENSG00000123908
OMIM: 606229, Gene2Phenotype
AGO2 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Comment on list classification: New gene added by Zornitza Stark. All patients reported in PMID: 33199684 presented GDD/ID, while other features were relatively heterogenous. However, cognitive impairment was perhaps too mild in majority of cases. Tagged 'for-review' to assess whether there is sufficient evidence for a Green rating in light of the scope of the ID panel.
Created: 24 Dec 2020, 11:04 a.m. | Last Modified: 24 Dec 2020, 11:04 a.m.
Panel Version: 3.686
Currently not associated with any phenotype in OMIM or Gene2Phenotype.

- PMID: 33199684 (2020) - 21 individuals affected by mild to severe GDD often with speech delay, discovered either by WES or microarray-based comparative genomic hybridization. GDD/ID was the universal feature among cases, albeit of variable degree and majority of cases were mild. Nonetheless, authors do report moderate/severe delay in at least 4 unrelated cases. Other features include hypotonia (12/21), gait abnormalities (10/18), brain MRI anomalies, mainly affecting the corpus callosum (9/16), seizures (8/18) and skeletal anomalies, not including congenital anomalies of the skull (9/19).
Some functional studies showing that each variant resulted in impaired shRNA-mediated silencing due to defects in RISC formation or increased binding of AGO2 to mRNA targets.
Created: 24 Dec 2020, 10:52 a.m. | Last Modified: 24 Dec 2020, 10:52 a.m.
Panel Version: 3.685

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Zornitza Stark (Australian Genomics)

Green List (high evidence)

21 individuals reported, five variants (p.L192P, p.G201V, p.T357M, p.M364T, p.C751Y) were recurrent. Variable ID.
Sources: Literature
Created: 9 Dec 2020, 7:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; regression; seizures

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Intellectual disability
  • regression
  • seizures
Tags
for-review
OMIM
606229
Clinvar variants
Variants in AGO2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ago2 has been classified as Amber List (Moderate Evidence).

24 Dec 2020, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: AGO2.

9 Dec 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: AGO2 was added gene: AGO2 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: AGO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AGO2 were set to 33199684 Phenotypes for gene: AGO2 were set to Intellectual disability; regression; seizures Review for gene: AGO2 was set to GREEN