TEST Undiagnosed metabolic disorders
Gene: ABAT

ABAT (4-aminobutyrate aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000183044
EnsemblGeneIds (GRCh37): ENSG00000183044
OMIM: 137150, Gene2Phenotype
ABAT is in 10 panels

1 review

Ivone Leong (Genomics England Curator)

Comment on list classification: TEST demotion
Created: 20 Aug 2019, 12:59 p.m. | Last Modified: 20 Aug 2019, 12:59 p.m.

Panel Version: 1.3

Created: 20 Aug 2019, 12:59 p.m.
Last Modified: 20 Aug 2019, 12:59 p.m.
Panel version: 1.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

OMIM

137150

Clinvar variants

Variants in ABAT

Penetrance

None

Publications

27604308

Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: abat has been classified as Red List (Low Evidence).

20 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: ABAT was added gene: ABAT was added to TEST Undiagnosed metabolic disorders. Sources: Literature,Expert Review Green Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABAT were set to 27604308

TEST Undiagnosed metabolic disorders Gene: ABAT