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  2. Likely inborn error of metabolism
  3. ABAT
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Likely inborn error of metabolism

Gene: ABAT

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

5 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Red List (low evidence)

Created: 5 Nov 2017, 2:38 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Saikat Santra (Birmingham Children's Hospital)

Green List (high evidence)

Confirmed link to metabolic disease (if CSF included) and not likely to be considered in first line metabolic testing and therefore appropriate for this panel
Created: 3 Jan 2017, 11:13 a.m.
Created: 3 Jan 2017, 11:13 a.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

Richard Scott (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Additional evidence
Created: 2 Sep 2016, 8:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 2 Sep 2016, 8:15 a.m.

Panel version: Imported from Mitochondrial disorders panel version 1.10

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 6 Feb 2016, 11:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 6 Feb 2016, 11:36 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Reviewers disagree - remain conservative as there is only a single mutation report in the literature, and therefore this gene should remain red until further evidence.
Created: 10 Feb 2016, 10:28 a.m.
Gene added during review by Carl Fratter (Oxford University Hospitals NHS Trust).
Created: 13 Nov 2015, 3:10 p.m.
Created: 13 Nov 2015, 3:10 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0

Details

Mode of Inheritance
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
OMIM
137150
Clinvar variants
Variants in ABAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ABAT. Source London North GLH was added to ABAT.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes mtDNA depletion syndrome; 613163; GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate) for gene: ABAT Publications for gene ABAT were changed from Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457 to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ABAT was added gene: ABAT was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABAT were set to Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457 Phenotypes for gene: ABAT were set to 613163; mtDNA depletion syndrome