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Epileptic encephalopathy

Gene: ABAT

Red List (low evidence)

ABAT (4-aminobutyrate aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000183044
EnsemblGeneIds (GRCh37): ENSG00000183044
OMIM: 137150, Gene2Phenotype
ABAT is in 10 panels

2 reviews

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
  • Expert Review Red
Phenotypes
  • GABA-transaminase deficiency
OMIM
137150
Clinvar variants
Variants in ABAT
Penetrance
Complete
Publications
  • Tsuji et al (2010) A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. J Inherit Metab Dis 33(1):85-90
Panels with this gene

History Filter Activity

2 Sep 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Apr 2016, Gel status: 0

Added New Source

Pedro Louro (Guy's Hospital)

ABAT was added to Epileptic encephalopathypanel. Sources: Literature

6 Apr 2016, Gel status: 0

Created

Pedro Louro (Guy's Hospital)

ABAT was created by pjplouro