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Intellectual disability

Gene: ARID2

Green List (high evidence)

ARID2 (AT-rich interaction domain 2)
EnsemblGeneIds (GRCh38): ENSG00000189079
EnsemblGeneIds (GRCh37): ENSG00000189079
OMIM: 609539, Gene2Phenotype
ARID2 is in 3 panels

5 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Appropriate phenotype, sufficient cases
Created: 13 Nov 2017, 2:31 p.m.

Caroline Wright (Sanger)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype as a probable gene in G2P. Not associated with phenotype in OMIM and At least 6 variants reported in unerelated cases
Created: 31 Oct 2017, 9:57 a.m.

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

Phenotypes
Coffin-Siris syndrome-like phenotype

Publications

Cristina Dias (The Francis Crick Institute)

Green List (high evidence)

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

Phenotypes
Intellectual Disability

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Red
Phenotypes
  • Coffin-Siris syndrome-like phenotype
OMIM
609539
Clinvar variants
Variants in ARID2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to ARID2.

12 Mar 2018, Gel status: 4

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 4

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Green was added to ARID2. Panel: Intellectual disability Model of inheritance for gene ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene ARID2 was set to ['28124119', ' 26238514 ']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ARID2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ARID2 was added to Intellectual disabilitypanel. Sources: Expert Review Red