Early onset or syndromic epilepsy

Gene: ADAR

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

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

• 27937139
• 24011626

Comment on list classification: Based on review by Arianna Tucci (Genomics England Curator)

Created: 16 Jul 2018, 3:28 p.m.

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