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Intellectual disability - microarray and sequencing v5.309 AGO1 Arina Puzriakova Tag gene-checked was removed from gene: AGO1.
Intellectual disability - microarray and sequencing v5.309 AGO1 Arina Puzriakova Phenotypes for gene: AGO1 were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Autism to Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures, OMIM:620292
Intellectual disability - microarray and sequencing v3.1759 AGO1 Arina Puzriakova Publications for gene: AGO1 were set to 26350204; 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770; 28135719
Intellectual disability - microarray and sequencing v3.1562 AGO1 Eleanor Williams Tag gene-checked tag was added to gene: AGO1.
Intellectual disability - microarray and sequencing v3.1519 AGO1 Ivone Leong Tag Q2_21_expert_review was removed from gene: AGO1.
Intellectual disability - microarray and sequencing v3.1519 AGO1 Sarah Leigh commented on gene: AGO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Intellectual disability - microarray and sequencing v3.1519 AGO1 Ivone Leong Source Expert Review Green was added to AGO1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v3.1019 AGO1 Arina Puzriakova Tag Q2_21_expert_review tag was added to gene: AGO1.
Intellectual disability - microarray and sequencing v3.1019 AGO1 Arina Puzriakova commented on gene: AGO1
Intellectual disability - microarray and sequencing v3.1019 AGO1 Arina Puzriakova Publications for gene: AGO1 were set to 26350204; 30213762; 22495306; 23020937; 25363768; 25356899; 27620904; 29346770
Intellectual disability - microarray and sequencing v3.1003 AGO1 Zornitza Stark reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30213762, 22495306, 23020937, 25363768, 25356899, 27620904, 29346770, 28135719; Phenotypes: Intellectual disability, autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability - microarray and sequencing v2.697 AGO1 Louise Daugherty Classified gene: AGO1 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v2.697 AGO1 Louise Daugherty Added comment: Comment on list classification: Changed rating of gene from Red to Amber based on current information in the literature and external expert review. There is not enough evidence to support gene-disease association rating of this gene to Green.
Intellectual disability - microarray and sequencing v2.697 AGO1 Louise Daugherty Gene: ago1 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v2.696 AGO1 Louise Daugherty Tag missense tag was added to gene: AGO1.
Intellectual disability - microarray and sequencing v2.696 AGO1 Louise Daugherty Added comment: Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the ID panel
Intellectual disability - microarray and sequencing v2.696 AGO1 Louise Daugherty Phenotypes for gene: AGO1 were changed from to Generalized hypotonia; Global developmental delay; Intellectual disability; Autism
Intellectual disability - microarray and sequencing v2.695 AGO1 Louise Daugherty Added comment: Comment on publications: Added publications suggested from external expert review to support upgrading of the gene. Also added PMID: 29726122 (2018) that reports a novel 2.3 Mb, de novo, 1p34.3p34.2 deletion in a patient with who has a history of global developmental delay, mild intellectual disability, delayed bone age, bilateral vesicoureteral reflux, vocal cord paralysis, right aberrant subclavian artery, kyphoscoliosis, bilateral metatarsus adductus, and valgus knee deformity. This adds to the evolving genetic literature that haploinsufficiency of this region and genes other than AGO1, AGO3, GRIK3, SLC2A1, and RIMS3 may lead to the neurocognitive delays
Intellectual disability - microarray and sequencing v2.695 AGO1 Louise Daugherty Publications for gene: AGO1 were set to 26350204
Intellectual disability - microarray and sequencing v2.693 AGO1 Louise Daugherty commented on gene: AGO1: AGO1 previous HGNC gene symbol was EIF2C1.
Intellectual disability - microarray and sequencing v2.693 AGO1 Louise Daugherty Added comment: Comment on mode of inheritance: changed MOI- agreed with external reviwer that x linked is not appropriate for this gene and was an error
Intellectual disability - microarray and sequencing v2.693 AGO1 Louise Daugherty Mode of inheritance for gene: AGO1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability - microarray and sequencing v2.510 AGO1 Konstantinos Varvagiannis reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30213762, 22495306, 23020937, 25363768, 25356899, 27620904, 29346770; Phenotypes: Generalized hypotonia, Global developmental delay, Intellectual disability, Autism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Intellectual disability - microarray and sequencing v2.510 AGO1 Konstantinos Varvagiannis Deleted their review
Intellectual disability - microarray and sequencing v2.510 AGO1 Konstantinos Varvagiannis reviewed gene: AGO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30213762, 22495306, 23020937, 25363768, 25356899, 27620904, 29346770; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown