Early onset or syndromic epilepsy
Gene: ABAT
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 GABA-transaminase deficiency - neonatal or early infantile onset encephalopathy (Koenig 2017). Medina Kauwe et al, 1999 -described a secind unrelated patient and reviewed the patient reported by Jaeken et al (1984) - both had refractory seizures - mutations detected in the ABAT gene. Tsuji et al, 2010 - Japanese female born to non-consang parents - myoclonic jerks at 8 months - compound het mutation in ABAT. Nagappa et al, 2017 - child of non-consang parents - at 18 months having multifocal eleptiform discharges on EEG - compound het mutations detected. Koenig et al, 2017 - reviewed a series of 10 cases - all patients presented with neonatal/infantile-onset encephalopathy - one of these individuals 8 year old boy of Mexican descent - hom variant. No functional studies done.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
GABA-transaminase deficiency, 613163
Publications
Comment on list classification: Based on review by Arianna Tucci (Genomics England Curator)Created: 16 Jul 2018, 3:18 p.m.
epilepsy is a part of the phenotype. enough evidence to mark the gene greenCreated: 29 Jun 2018, 1:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Comment on list classification: Gene added to mitochondrial/inherited white matters panel and analysed in EE patients with features of those disorders.Created: 2 Sep 2016, 8:22 a.m.
Early-onset epileptic encephalopathy
Accelerated growthCreated: 6 Apr 2016, 11:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GABA-transaminase deficiency
Publications
Publications for gene: ABAT were set to 20052547; 27376954
Source Wessex and West Midlands GLH was added to ABAT.
Source NHS GMS was added to ABAT.
Pedro Louro: Early-onset epileptic encephal
Gene: abat has been classified as Green List (High Evidence).
Publications for gene: ABAT were set to 20052547; 27376954
Phenotypes for gene: ABAT were set to GABA-transaminase deficiency 613163
Gene: abat has been classified as Green List (High Evidence).
Expert Review Amber was added to ABAT. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to ABAT. Panel: Genetic Epilepsy Syndromes
ABAT was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Literature
ABAT was created by Sarah Leigh