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Fetal anomalies

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 11:09 a.m. | Last Modified: 26 Sep 2024, 11:09 a.m.
Panel Version: 4.192
This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.192

Natalie Chandler (North Thames GLH)

Green List (high evidence)

Over 22 cases reported now with 14 mutations in gene; 8 with 12q12-13.11 deletions. PMID:33051312 summarises cohort. Of ones with mutation in gene 4/13 IUGR, 10/14 skeletal abnormalities, 1/14 congenital heart disease, 8/14 facial dysmorphism 2/14 noted to have increased NT, 2/14 umbilical hernia. Is RAS/MAPK pathway fetaures look variable patients often given clinical dx of Noonan. Green.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 6, OMIM:617808

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for ARID2-Coffin-Siris like disorder
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Coffin-Siris syndrome 6, OMIM:617808
OMIM
609539
Clinvar variants
Variants in ARID2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green was removed from gene: ARID2. Tag Q3_24_NHS_review was removed from gene: ARID2.

26 Sep 2024, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ARID2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Aug 2024, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ARID2 were changed from ARID2-Coffin-Siris like disorder; Coffin-Siris syndrome 6, OMIM:617808 to Coffin-Siris syndrome 6, OMIM:617808

30 Aug 2024, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_24_promote_green tag was added to gene: ARID2. Tag Q3_24_NHS_review tag was added to gene: ARID2.

29 Aug 2024, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to ARID2. Mode of inheritance for gene ARID2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Coffin-Siris syndrome 6, OMIM:617808 for gene: ARID2 Publications for gene: ARID2 were updated from to 28884947; 26238514; 35813374; 30838730; 28124119; 29698805

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: ARID2 was added gene: ARID2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ARID2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARID2 were set to ARID2-Coffin-Siris like disorder