Miscellaneous Metabolic Disorders
Gene: BAATEnsemblGeneIds (GRCh38): ENSG00000136881
EnsemblGeneIds (GRCh37): ENSG00000136881
OMIM: 602938, Gene2Phenotype
BAAT is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bile acid conjugation defect 1, MIM# 619232
Bryony Thompson (Royal Melbourne Hospital)
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 GMSCreated: 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
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
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: baat has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: baat has been classified as Green List (High Evidence).
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