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Genetic epilepsy syndromes

Gene: ARID1B

Green List (high evidence)

ARID1B (AT-rich interaction domain 1B)
EnsemblGeneIds (GRCh38): ENSG00000049618
EnsemblGeneIds (GRCh37): ENSG00000049618
OMIM: 614556, Gene2Phenotype
ARID1B is in 7 panels

5 reviews

alisdair mcneill (Sheffield childrens hospital)

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

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Sarah Leigh (Genomics England Curator)

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.

Arianna Tucci (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Coffin-Siris syndrome 1, 135900
OMIM
614556
Clinvar variants
Variants in ARID1B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: arid1b has been classified as Green List (High Evidence).

8 Oct 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ARID1B were set to

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ARID1B.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ARID1B.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: Mutations in this gene cause C

17 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: arid1b has been classified as Green List (High Evidence).

17 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1, 135900

17 Jul 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ARID1B was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: arid1b has been classified as Green List (High Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to ARID1B. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ARID1B was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ARID1B was created by Sarah Leigh