1. Panels
  2. Congenital Diarrhoea
  3. ABAT
STRs in panel
Prev Next
Regions in panel
Prev Next

Congenital Diarrhoea

Gene: ABAT

Red List (low evidence)
ABAT (4-aminobutyrate aminotransferase)
EnsemblGeneIds (GRCh38): ENSG00000183044
EnsemblGeneIds (GRCh37): ENSG00000183044
OMIM: 137150, Gene2Phenotype
ABAT is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Gene appears to have been included due to confusion with apical bile acid transporters (ABATs), which have different gene names.
Created: 23 Aug 2020, 2:38 a.m. | Last Modified: 23 Aug 2020, 2:38 a.m.
Panel Version: 0.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
GABA-transaminase deficiency, MIM# 613163

Created: 23 Aug 2020, 2:38 a.m.
Last Modified: 23 Aug 2020, 2:38 a.m.
Panel version: 0.6

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • GABA-transaminase deficiency, MIM# 613163
OMIM
137150
Clinvar variants
Variants in ABAT
Penetrance
None
Panels with this gene

History Filter Activity

23 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Aug 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABAT were changed from to GABA-transaminase deficiency, MIM# 613163

23 Aug 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

23 Aug 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABAT was added gene: ABAT was added to Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABAT was set to Unknown