Cholestasis
Gene: BAAT

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

Created: 28 Mar 2021, 8:37 a.m.
Last Modified: 28 Mar 2021, 8:37 a.m.
Panel version: 0.188

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