Mitochondrial DNA maintenance disorder
Gene: ABATEnsemblGeneIds (GRCh38): ENSG00000183044
EnsemblGeneIds (GRCh37): ENSG00000183044
OMIM: 137150, Gene2Phenotype
ABAT is in 10 panels
5 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: ABAT; Suggested intial gene rating: Green; Information provided: Mode of inheritance, phenotype and publication.Created: 1 Feb 2019, 4:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome
Publications
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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Mitochondrial DNA depletion syndrome
- OMIM
- 137150
- Clinvar variants
- Variants in ABAT
- Penetrance
- None
- Publications
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: ABAT was added gene: ABAT was added to Mitochondrial DNA maintenance disorder. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABAT were set to 25738457 Phenotypes for gene: ABAT were set to Mitochondrial DNA depletion syndrome