1. Panels
  2. Paroxysmal Dyskinesia
  3. ABAT
STRs in panel
Prev Next
Regions in panel
Prev Next

Paroxysmal Dyskinesia

Gene: ABAT

Amber List (moderate evidence)
ABAT (4-aminobutyrate aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000183044
EnsemblGeneIds (GRCh37): ENSG00000183044
OMIM: 137150, Gene2Phenotype
ABAT is in 12 panels

1 review

Shekeeb Mohammad (Children's Hospital at Westmead)

I don't know

Sources: Literature
Created: 15 Sep 2023, 5:12 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia

Publications

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

Created: 15 Sep 2023, 5:12 a.m.

Panel version: 0.112

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • GABA-transaminase deficiency, MIM# 613163
  • intellectual disability
  • autism
  • DEE
  • epilepsy
  • paroxysmal dyskinesia
OMIM
137150
Clinvar variants
Variants in ABAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abat has been classified as Amber List (Moderate Evidence).

18 Sep 2023, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABAT were changed from intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia to GABA-transaminase deficiency, MIM# 613163; intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia

18 Sep 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: abat has been classified as Amber List (Moderate Evidence).

15 Sep 2023, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: ABAT was added gene: ABAT was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABAT were set to 30617166 Phenotypes for gene: ABAT were set to intellectual disability; autism; DEE; epilepsy; paroxysmal dyskinesia Review for gene: ABAT was set to AMBER gene: ABAT was marked as current diagnostic