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| Miscellaneous Metabolic Disorders v1.2 | BAAT | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.1 | BAAT | Zornitza Stark reviewed gene: BAAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bile acid conjugation defect 1, MIM# 619232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.93 | BAAT | Bryony Thompson Marked gene: BAAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.93 | BAAT | Bryony Thompson Gene: baat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.93 | BAAT | Bryony Thompson Classified gene: BAAT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.93 | BAAT | Bryony Thompson Gene: baat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v0.92 | BAAT |
Bryony Thompson 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 Added comment: 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 |
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