ABAT

4-aminobutyrate aminotransferase
OMIM: 137150
PanelMode of inheritanceDetails
7 panels
R-numbers: R57
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GABA-transaminase deficiency 613163
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GABA-transaminase deficiency 613163
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
613163, GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate), mtDNA depletion syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GABA-transaminase deficiency, 613163, developmental delay
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
mtDNA depletion syndrome, 613163
R-numbers: R352
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome
R-numbers: R63
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome