ABAT

4-aminobutyrate aminotransferase
OMIM: 137150, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

No list ABAT in Neurotransmitter disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • GABA-transaminase deficiency, MIM# 613163

Red ABAT in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Green ABAT in Mitochondrial DNA maintenance disorder


Version 1.10
Latest signed off version: v1.2 (17 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome

Green ABAT in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate)
  • mtDNA depletion syndrome
  • 613163

Green ABAT in Inborn errors of metabolism


Version 2.263
Latest signed off version: v2.3 (17 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • 613163
    • GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate)
    • mtDNA depletion syndrome

    Green ABAT in Possible mitochondrial disorder - nuclear genes


    Version 1.94
    Latest signed off version: v1.17 (11 Nov 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Mitochondrial DNA depletion syndrome

    Green ABAT in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.563
    Latest signed off version: v2.2 (13 Feb 2020)

    review 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

    Green ABAT in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • GABA-transaminase deficiency, 613163
    • developmental delay

    Green ABAT in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.117
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review
    • Literature
    Phenotypes
    • mtDNA depletion syndrome
    • 613163

    Green ABAT in Childhood onset dystonia or chorea or related movement disorder


    Version 1.241
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • GABA-transaminase deficiency 613163

    Green ABAT in Severe Paediatric Disorders


    Version 1.127

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • GABA-transaminase deficiency, 613163