Early onset or syndromic epilepsy

Gene: ARID1B

Green List (high evidence)

epilepsy is part of the ARID1B phenotype.

Created: 7 Oct 2019, 2:06 p.m. | Last Modified: 7 Oct 2019, 2:06 p.m.

Panel Version: 1.352

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

I don't know

The Green rating by Dr Alisdair McNeil (Sheffield Children's Hospital, Yorkshire and North East GLH) supports the current Green rating of ARID1B.

Created: 8 Oct 2019, 9:55 a.m. | Last Modified: 8 Oct 2019, 9:55 a.m.

Panel Version: 1.356

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AD Coffin Siris syndrome 1 - multiple malformation syndrome characterised by mental reatrdation assoc with coarse facial features, hypertrichosis, sparse scalp hair and hypoplastic or absent fifth fingernails or toenails. On OMIM in the clinical synopsis they list seizures in some patients. In the clinical features section none of the patients listed have seizures. Santen et al, 2013 - in the 20 ARID1B variants identifed 25% of these patients had epilepsy.

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome, 135900

Publications

• 22405089

Comment on list classification: Based on review by Dr Arianna Tucci (Genomics England Clinical Fellow and Curator)

Created: 17 Jul 2018, 9:46 a.m.

Green List (high evidence)

Mutations in this gene cause Coffin-Siris syndrome, and epilepsy is part of the phenotype

Created: 5 Jul 2018, 2:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 1, 135900