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Genetic epilepsy syndromes

Gene: ADAR

Green List (high evidence)

ADAR (adenosine deaminase, RNA specific)
EnsemblGeneIds (GRCh38): ENSG00000160710
EnsemblGeneIds (GRCh37): ENSG00000160710
OMIM: 146920, Gene2Phenotype
ADAR is in 23 panels

4 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Comment on mode of inheritance: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that MOI should remain as BIALLELIC: No current evidence for seizures in monoallelic cases.
Created: 25 Nov 2019, 9:17 p.m. | Last Modified: 25 Nov 2019, 9:17 p.m.
Panel Version: 1.466
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 dyschromatosis symmetrica hereditaria and AR Aicardi Goutieres syndrome 6 (AGS6). No mention of seizures as a feature on OMIM with AGS6. Schmelzer et al, 2018 - early onset infection triggered encephalopathy in 2 sibs and a missense variant identified in AGS6. This paper mentions that the clinical course of AGS in its classical presentation is characterised by an encephalitic phase that may be accompanied by seizures and recurrent sterile pyrexia that usually results in severe global developmental delay. Livingstone et al, 2014 - 9 ADAR1 mutation positive patients (2 pairs of sibs) - onset seemed to follow viral/bacterial illness - one patrient mentioned as having controlled 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome, 615010; Dyschromatosis symmetrica hereditaria, 127400

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on review by Arianna Tucci (Genomics England Curator)
Created: 16 Jul 2018, 3:28 p.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

seizures are part of the phenotype. enough evidence to mark as green
Created: 29 Jun 2018, 1:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Aicardi-Goutieres syndrome 6, 615010

History Filter Activity

25 Nov 2019, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

14 Oct 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ADAR 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 ADAR.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ADAR.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: seizures are part of the pheno

16 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

16 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6 615010

16 Jul 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal

16 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: adar 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 ADAR. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

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

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ADAR was created by Sarah Leigh