Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual disability syndromic and non-syndromic

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple individuals reported with de novo variants in this gene, most as part of large ID cohorts so phenotypic information is scarce; however, given large number I have rated as Green.
Sources: Expert list
Created: 27 Jan 2020, 5:56 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292
OMIM
606228
Clinvar variants
Variants in AGO1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AGO1 were changed from Intellectual disability; autism to Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, MIM# 620292

27 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ago1 has been classified as Green List (High Evidence).

27 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ago1 has been classified as Green List (High Evidence).

27 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGO1 was added gene: AGO1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: AGO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AGO1 were set to 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770; 28135719 Phenotypes for gene: AGO1 were set to Intellectual disability; autism Review for gene: AGO1 was set to GREEN