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Genetic epilepsy syndromes

Gene: ABAT

Green List (high evidence)

ABAT (4-aminobutyrate aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000183044
EnsemblGeneIds (GRCh37): ENSG00000183044
OMIM: 137150, Gene2Phenotype
ABAT is in 9 panels

6 reviews

Rebecca Foulger (Genomics England curator)

I don't know

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)

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

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on review by Arianna Tucci (Genomics England Curator)
Created: 16 Jul 2018, 3:18 p.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

epilepsy is a part of the phenotype. enough evidence to mark the gene green
Created: 29 Jun 2018, 1:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Richard Scott (Genomics England Curator)

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.

Pedro Louro (Guy's Hospital)

Green List (high evidence)

Early-onset epileptic encephalopathy
Accelerated growth
Created: 6 Apr 2016, 11:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GABA-transaminase deficiency

Publications

  • Louro et al (2016) Phenotyping GABA transaminase deficiency: a case description and literature review. J Inherit Metab Dis 39(5):743-7

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Literature
Phenotypes
  • GABA-transaminase deficiency 613163
OMIM
137150
Clinvar variants
Variants in ABAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Oct 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ABAT were set to 20052547; 27376954

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ABAT.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ABAT.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Pedro Louro: Early-onset epileptic encephal

16 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

16 Jul 2018, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ABAT were set to 20052547; 27376954

16 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ABAT were set to GABA-transaminase deficiency 613163

16 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: abat 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 ABAT. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to ABAT. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ABAT was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Literature

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ABAT was created by Sarah Leigh