Likely inborn error of metabolism - targeted testing not possible
Gene: ABAT
Confirmed link to metabolic disease (if CSF included) and not likely to be considered in first line metabolic testing and therefore appropriate for this panelCreated: 3 Jan 2017, 11:13 a.m.
Comment on list classification: Additional evidenceCreated: 2 Sep 2016, 8:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
single mutation report in literatureCreated: 6 Feb 2016, 11:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
Source NHS GMS was added to ABAT. Source London North GLH was added to ABAT.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
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
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