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Congenital Heart Defect

Gene: ARID1A

Green List (high evidence)

ARID1A (AT-rich interaction domain 1A)
EnsemblGeneIds (GRCh38): ENSG00000117713
EnsemblGeneIds (GRCh37): ENSG00000117713
OMIM: 603024, Gene2Phenotype
ARID1A is in 14 panels

2 reviews

Mary Huang (University of Melbourne)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome

Publications

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

This is a well-established congenital abnormality gene.
Created: 19 Nov 2023, 1:51 a.m. | Last Modified: 19 Nov 2023, 1:51 a.m.
Panel Version: 0.315

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome MONDO:0015452

Publications

  • NBK131811

History Filter Activity

22 Nov 2023, 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).

22 Nov 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARID1A were changed from to Coffin-Siris syndrome MONDO:0015452

22 Nov 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARID1A were set to

22 Nov 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ARID1A was added gene: ARID1A was added to Congenital Heart Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARID1A was set to Unknown