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  3. ARID1A
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Clefting

Gene: ARID1A

Amber List (moderate evidence)
ARID1A (AT-rich interaction domain 1A)
EnsemblGeneIds (GRCh38): ENSG00000117713
EnsemblGeneIds (GRCh37): ENSG00000117713
OMIM: 603024, Gene2Phenotype
ARID1A is in 5 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

Comment on list classification: Clefting is a minor feature on patients with monoallelic variants in ARID1A gene and it should be rated amber although there are three cases with clefting (from a total of 34 cases).
Created: 23 Jun 2023, 10:17 a.m. | Last Modified: 23 Jun 2023, 10:17 a.m.
Panel Version: 4.58
PMID:25168959 - Two of eight patients with heterozygous variants in ARID1A gene had cleft palate.

DECIPHER database - One of 26 patients with heterozygous sequence variants in ARID1A gene had cleft palate.
Sources: Literature
Created: 23 Jun 2023, 10:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 2, OMIM:614607

Publications

Created: 23 Jun 2023, 10:11 a.m.
Last Modified: 23 Jun 2023, 10:17 a.m.
Panel version: 4.58

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Coffin-Siris syndrome 2, OMIM:614607
OMIM
603024
Clinvar variants
Variants in ARID1A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Jun 2023, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ARID1A were changed from to Coffin-Siris syndrome 2, OMIM:614607

23 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: arid1a has been classified as Amber List (Moderate Evidence).

23 Jun 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ARID1A was added gene: ARID1A was added to Clefting. Sources: Literature Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1A were set to 25168959; 37010288 Review for gene: ARID1A was set to AMBER