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  3. AGO1
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Early onset or syndromic epilepsy

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

2 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 1:13 p.m. | Last Modified: 6 May 2024, 9:16 p.m.
Panel Version: 5.6

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

Created: 2 May 2024, 1:13 p.m.
Last Modified: 6 May 2024, 9:16 p.m.
Panel version: 5.6

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Multiple individuals reported with de novo variants in this gene. About half of patients develop seizures, which may be controlled or refractory.

Given that in some patients seizures are a prominent component of their phenotype and there are a sufficient number of individuals to support this gene-disease association, there is enough evidence to promote AGO1 to green status at the next GMS panel update.
Sources: Literature
Created: 16 Oct 2023, 4:24 p.m.

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

Phenotypes
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292

Publications

Created: 16 Oct 2023, 4:24 p.m.

Panel version: 4.116

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292
OMIM
606228
Clinvar variants
Variants in AGO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: AGO1.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to AGO1. Source Expert Review Green was added to AGO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

16 Oct 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: ago1 has been classified as Amber List (Moderate Evidence).

16 Oct 2023, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: AGO1 was added gene: AGO1 was added to Early onset or syndromic epilepsy. Sources: Literature Q4_23_promote_green tags were added to gene: AGO1. Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AGO1 were set to 25356899; 30213762; 34930816 Phenotypes for gene: AGO1 were set to Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292 Review for gene: AGO1 was set to GREEN