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Possible mitochondrial disorder - nuclear genes

Gene: ABAT

Green List (high evidence)

ABAT (4-aminobutyrate aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000183044
EnsemblGeneIds (GRCh37): ENSG00000183044
OMIM: 137150, Gene2Phenotype
ABAT is in 11 panels

5 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome

Publications

Carl Fratter (Oxford University Hospitals NHS Trust)

Red List (low evidence)

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

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

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.

History Filter Activity

4 Feb 2019, Gel status: 4

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 Possible mitochondrial disorder - nuclear genes. 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