Miscellaneous Metabolic Disorders
Gene: BAAT
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bile acid conjugation defect 1, MIM# 619232
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
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
Gene: baat has been classified as Green List (High Evidence).
Gene: baat has been classified as Green List (High Evidence).
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