Cholestasis

Gene: BAAT

Green List (high evidence)

BAAT (bile acid-CoA:amino acid N-acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000136881
EnsemblGeneIds (GRCh37): ENSG00000136881
OMIM: 602938, Gene2Phenotype
BAAT is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 12704386 - A homozygous missense (M76V) was identified 5 cases from 3 families that were all of Lancaster County Old Order Amish descent. The variant was associated with lower levels of conjugation in a dose-dependent fashion, and homozygote individuals had no amino acid–conjugated bile acids. PMID: 23415802 - 7 cases with homozygous variants from 4 unrelated families with features of a genetic defect in bile acid conjugation.
Created: 28 Mar 2021, 8:37 a.m. | Last Modified: 28 Mar 2021, 8:37 a.m.
Panel Version: 0.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid conjugation defect 1, MIM# 619232

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bile acid conjugation defect 1, MIM# 619232
OMIM
602938
Clinvar variants
Variants in BAAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: baat has been classified as Green List (High Evidence).

28 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BAAT were changed from to Bile acid conjugation defect 1, MIM# 619232

28 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BAAT were set to

28 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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