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  3. ARID1A
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Fetal anomalies

Gene: ARID1A

Green List (high evidence)
ARID1A (AT-rich interaction domain 1A)
EnsemblGeneIds (GRCh38): ENSG00000117713
EnsemblGeneIds (GRCh37): ENSG00000117713
OMIM: 603024, Gene2Phenotype
ARID1A is in 13 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, congenital anomalies reported.
Created: 8 Nov 2021, 3:16 a.m. | Last Modified: 8 Nov 2021, 3:16 a.m.
Panel Version: 0.165

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 2 (MIM#614607)

Publications

Created: 8 Nov 2021, 3:16 a.m.
Last Modified: 8 Nov 2021, 3:16 a.m.
Panel version: 0.165

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported in CSS patients. ID is a consistent feature
Created: 7 Sep 2020, 12:44 a.m. | Last Modified: 7 Sep 2020, 12:44 a.m.
Panel Version: 0.2967

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

Phenotypes
Coffin-Siris syndrome 2 (MIM#614607)

Publications

Created: 7 Sep 2020, 12:44 a.m.
Last Modified: 7 Sep 2020, 12:44 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.2967

History Filter Activity

8 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arid1a has been classified as Green List (High Evidence).

8 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARID1A were changed from COFFIN-SIRIS SYNDROME to Coffin-Siris syndrome 2 (MIM#614607)

8 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARID1A were set to

8 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ARID1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARID1A was added gene: ARID1A was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARID1A were set to COFFIN-SIRIS SYNDROME