Early onset or syndromic epilepsy
Gene: NAGA
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
AR Schindler disease type I and III. Seizures have been reported as part of the phenotpye for both subtypes. Bakker et al, 2001 - table 3 summary of all reported patients only 3/11 reported with epilepsy (2 from Van Diggelen et al/Schindler et al - brothers and Keulemans et al - distant relative of the previous case), therefore 3 affecteds all from the same family. De Jong et al, 1994 - 2 Dutch sibs, 1 had seizures 1 didn't.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kanzaki disease 609242 ; Schindler disease, type I 609241 ; Schindler disease, type III 609241
Publications
Comment on list classification: Changed from Amber to Green. Appropriate phenotype, sufficient cases, and external review comment all support gene-disease association.Created: 4 Dec 2018, 4:58 p.m.
Comment on publications: Added publications to support gene-disease association, and upgrading of the gene to GreenCreated: 4 Dec 2018, 4:56 p.m.
Comment on mode of inheritance: Added MOI from external clinical review and publicationsCreated: 4 Dec 2018, 12:04 p.m.
Comment on phenotypes: Added phenotypes suggested from expert review that indicate relevance to inclusion on the Genetic Epilepsy Syndromes panelCreated: 4 Dec 2018, 11:52 a.m.
Seizures are part of the phenotype of this metabolic disorder.Created: 17 Aug 2018, 8:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Schindler disease, type I, MIM#609241
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to NAGA.
Source NHS GMS was added to NAGA.
Zornitza Stark: Seizures are part of the pheno
Gene: naga has been classified as Green List (High Evidence).
Gene: naga has been classified as Green List (High Evidence).
Publications for gene: NAGA were set to
Mode of inheritance for gene: NAGA was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were changed from to Schindler disease, type I, 609241; seizures
Expert Review Amber was added to NAGA. Panel: Genetic Epilepsy Syndromes
NAGA was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
NAGA was created by Sarah Leigh