Mitochondrial disorders
Gene: ABAT
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.
Victorian Clinical Genetics Services was added to ABAT. Panel: Mitochondrial disorders
Phenotypes for ABAT were set to mtDNA depletion syndrome;613163
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for ABAT were set to Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457
Phenotypes for ABAT were set to mtDNA depletion syndrome
This gene has been classified as Red List (Low Evidence).
ABAT was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert Review
This proposed gene was validated and added to this panel
ABAT was added to All recognised syndromes and those with suggestive featurespanel. Sources: Literature