This Panel is marked as Retired
Epilepsy Plus
Gene: ABAT
ABAT (4-aminobutyrate aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000183044
EnsemblGeneIds (GRCh37): ENSG00000183044
OMIM: 137150, Gene2Phenotype
ABAT is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000183044
EnsemblGeneIds (GRCh37): ENSG00000183044
OMIM: 137150, Gene2Phenotype
ABAT is in 11 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- 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
-
- Neurotransmitter disorders
- Likely inborn error of metabolism
- Fetal anomalies
- Dystonia, chorea or related movement disorder, childhood onset
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Mitochondrial DNA maintenance disorder
- DDG2P
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
- Intellectual disability
History Filter Activity
8 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ABAT was added to Epilepsy Pluspanel. Sources: Literature,Expert Review Red
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ABAT was created by ellenmcdonagh