Miscellaneous Metabolic Disorders

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid conjugation defect 1, MIM# 619232

Bryony Thompson (Royal Melbourne Hospital)

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.
Sources: NHS GMS
Created: 1 Feb 2021, 6:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypercholanemia, familial MIM#607748; disorder of bile acid metabolism

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Bile acid conjugation defect 1, MIM# 619232
  • Hypercholanemia, familial MIM#607748
  • disorder of bile acid metabolism
OMIM
602938
Clinvar variants
Variants in BAAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BAAT were changed from Hypercholanemia, familial MIM#607748; disorder of bile acid metabolism to Bile acid conjugation defect 1, MIM# 619232; Hypercholanemia, familial MIM#607748; disorder of bile acid metabolism

1 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Feb 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: BAAT was added gene: BAAT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BAAT were set to 12704386; 23415802 Phenotypes for gene: BAAT were set to Hypercholanemia, familial MIM#607748; disorder of bile acid metabolism Review for gene: BAAT was set to GREEN gene: BAAT was marked as current diagnostic