Early onset or syndromic epilepsy
Gene: ADAR
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
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
Comment on list classification: Based on review by Arianna Tucci (Genomics England Curator)Created: 16 Jul 2018, 3:28 p.m.
seizures are part of the phenotype. enough evidence to mark as greenCreated: 29 Jun 2018, 1:53 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Aicardi-Goutieres syndrome 6, 615010
Phenotypes for gene: ADAR were changed from Aicardi-Goutieres syndrome 6 615010 to Aicardi-Goutieres syndrome 6, OMIM:615010
Mode of inheritance for gene: ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAR were set to
Source Wessex and West Midlands GLH was added to ADAR.
Source NHS GMS was added to ADAR.
Arianna Tucci: seizures are part of the pheno
Gene: adar has been classified as Green List (High Evidence).
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6 615010
Mode of inheritance for gene: ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: adar has been classified as Green List (High Evidence).
Expert Review Amber was added to ADAR. Panel: Genetic Epilepsy Syndromes
ADAR was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ADAR was created by Sarah Leigh