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Genetic Epilepsy

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)

Gene Reviews: seizures said to be present in 50%.
Created: 5 Dec 2023, 8:28 a.m. | Last Modified: 5 Dec 2023, 8:28 a.m.
Panel Version: 0.1979

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 2 #614607

John Coleman (Murdoch Children's Research Institute)

Green List (high evidence)

Coffin Siris type 2 - seizures present in some but not all patients. Known haploinsufficiency of ARID1A and association with seizures presentation & type (34942405). Seizure reported on OMIM. Multiple reports of affected and unaffected. Seizures in 2/9 patients in case series (25168959). 6 year old female with classic features of CS and fever provoked tonic clonic seizures (33303725). A female Chinese patient 24 days old with ARID1A and seizures with hypotonia (35571021- supplementary table 1). Paper from Zurich with 1 patient described in a CS cohort with ARID1A and seizures (23906836). Review article of 63 CS patients described another 1 of 4 patients with seizures (23929686)
Sources: Literature, Expert Review
Created: 5 Dec 2023, 1:53 a.m. | Last Modified: 5 Dec 2023, 1:55 a.m.
Panel Version: 0.1975

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris Syndrome 2

Publications

History Filter Activity

5 Dec 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).

5 Dec 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ARID1A were changed from Coffin-Siris Syndrome 2 to Coffin-Siris syndrome 2 #614607

5 Dec 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).

5 Dec 2023, Gel status: 0

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

John Coleman (Murdoch Children's Research Institute)

gene: ARID1A was added gene: ARID1A was added to Genetic Epilepsy. Sources: Literature,Expert Review Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1A were set to (PMID:34942405; 25168959; 33303725; 35571021; 23906836; 23929686) Phenotypes for gene: ARID1A were set to Coffin-Siris Syndrome 2 Review for gene: ARID1A was set to GREEN