Neurotransmitter disorders
Gene: ABAT

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Over ten families reported. Disorder is is characterised by neonatal or early infantile-onset encephalopathy, hypotonia, hypersomnolence, epilepsy, choreoathetosis, and accelerated linear growth. EEGs show burst-suppression, modified hypsarrhythmia, multifocal spikes, and generalized spike-wave. Severity varies, but most individuals have profound developmental impairment and some die in infancy.
Sources: Expert list
Created: 23 Aug 2020, 2:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GABA-transaminase deficiency, MIM# 613163

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 23 Aug 2020, 2:02 a.m.

Panel version: 1.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

GABA-transaminase deficiency, MIM# 613163

OMIM

137150

Clinvar variants

Variants in ABAT

Penetrance

None

Publications

Panels with this gene

History Filter Activity

23 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: ABAT was added gene: ABAT was added to Neurotransmitter disorders. Sources: Expert list Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABAT were set to 28411234; 27596361; 20052547; 10407778; 6148708 Phenotypes for gene: ABAT were set to GABA-transaminase deficiency, MIM# 613163 Review for gene: ABAT was set to GREEN

Neurotransmitter disorders Gene: ABAT