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Intellectual disability - microarray and sequencing v3.1769 JARID2 Eleanor Williams commented on gene: JARID2
Intellectual disability - microarray and sequencing v3.1769 JARID2 Eleanor Williams Phenotypes for gene: JARID2 were changed from Intellectual disability; Neurodevelopmental syndrome to Intellectual disability; Neurodevelopmental syndrome; Developmental delay with variable intellectual disability and dysmorphic facies, OMIM:620098
Intellectual disability - microarray and sequencing v3.1768 JARID2 Eleanor Williams Tag gene-checked was removed from gene: JARID2.
Intellectual disability - microarray and sequencing v3.1562 JARID2 Arina Puzriakova Tag gene-checked tag was added to gene: JARID2.
Intellectual disability - microarray and sequencing v3.1513 JARID2 Arina Puzriakova Tag for-review was removed from gene: JARID2.
Intellectual disability - microarray and sequencing v3.1510 JARID2 Sarah Leigh commented on gene: JARID2
Intellectual disability - microarray and sequencing v3.1509 JARID2 Arina Puzriakova Source Expert Review Green was added to JARID2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability - microarray and sequencing v3.786 ARID2 Ivone Leong Source: Expert Review Red was removed from gene: ARID2
Intellectual disability - microarray and sequencing v3.561 JARID2 Arina Puzriakova Classified gene: JARID2 as Amber List (moderate evidence)
Intellectual disability - microarray and sequencing v3.561 JARID2 Arina Puzriakova Gene: jarid2 has been classified as Amber List (Moderate Evidence).
Intellectual disability - microarray and sequencing v3.560 JARID2 Arina Puzriakova Phenotypes for gene: JARID2 were changed from Intellectual disability to Intellectual disability; Neurodevelopmental syndrome
Intellectual disability - microarray and sequencing v3.559 JARID2 Arina Puzriakova Tag for-review tag was added to gene: JARID2.
Intellectual disability - microarray and sequencing v3.559 JARID2 Arina Puzriakova reviewed gene: JARID2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33077894; Phenotypes: Neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability - microarray and sequencing v3.502 JARID2 Konstantinos Varvagiannis reviewed gene: JARID2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability - microarray and sequencing v3.502 ARID2 Arina Puzriakova Added comment: Comment on publications: Added new publication (Kang et al. 2020) reviewing phenotypes of patients with ARID2 variants, and supporting the current Green rating on this panel.
Intellectual disability - microarray and sequencing v3.502 ARID2 Arina Puzriakova Publications for gene: ARID2 were set to 28124119; 26238514
Intellectual disability - microarray and sequencing v3.501 ARID2 Arina Puzriakova Phenotypes for gene: ARID2 were changed from Coffin-Siris syndrome-like phenotype to Coffin-Siris syndrome 6, 617808; ARID2-Coffin-Siris like disorder
Intellectual disability - microarray and sequencing v3.500 JARID2 Zornitza Stark gene: JARID2 was added
gene: JARID2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: JARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: JARID2 were set to 23294540; 33077894
Phenotypes for gene: JARID2 were set to Intellectual disability
Review for gene: JARID2 was set to GREEN
gene: JARID2 was marked as current diagnostic
Added comment: 13 individuals reported recently, note CNVs common but LOF sequence variants identified too.
Sources: Literature
Intellectual disability - microarray and sequencing v2.468 ARID2 Louise Daugherty Source Victorian Clinical Genetics Services was added to ARID2.
Intellectual disability - microarray and sequencing ARID2 Cristina Dias reviewed ARID2