Mitochondrial disorders
Gene: ABATEnsemblGeneIds (GRCh38): ENSG00000183044
EnsemblGeneIds (GRCh37): ENSG00000183044
OMIM: 137150, Gene2Phenotype
ABAT is in 10 panels
4 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Richard Scott (Genomics England Curator)
Comment on list classification: Additional evidenceCreated: 2 Sep 2016, 8:25 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Shamima Rahman (UCL Institute of Child Health)
single mutation report in literatureCreated: 6 Feb 2016, 11:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert Review
- Phenotypes
-
- mtDNA depletion syndrome
- 613163
- OMIM
- 137150
- Clinvar variants
- Variants in ABAT
- Penetrance
- Complete
- Publications
-
- Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Neurotransmitter disorders
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to ABAT. Panel: Mitochondrial disorders
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for ABAT were set to mtDNA depletion syndrome;613163
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ABAT were set to Besse et al., 2015, Cell Metab., 21(3), 417-427 PMID: 25738457
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ABAT were set to mtDNA depletion syndrome
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)ABAT was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert Review
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Carl Fratter (Oxford University Hospitals NHS Trust)ABAT was added to All recognised syndromes and those with suggestive featurespanel. Sources: Literature