Early onset or syndromic epilepsy
Gene: ARID1B
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
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
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
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.
Mutations in this gene cause Coffin-Siris syndrome, and epilepsy is part of the phenotypeCreated: 5 Jul 2018, 2:13 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 1, 135900
Gene: arid1b has been classified as Green List (High Evidence).
Publications for gene: ARID1B were set to
Source Wessex and West Midlands GLH was added to ARID1B.
Source NHS GMS was added to ARID1B.
Arianna Tucci: Mutations in this gene cause C
Gene: arid1b has been classified as Green List (High Evidence).
Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1, 135900
Mode of inheritance for gene: ARID1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: arid1b has been classified as Green List (High Evidence).
Expert Review Amber was added to ARID1B. Panel: Genetic Epilepsy Syndromes
ARID1B was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ARID1B was created by Sarah Leigh