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  1. Genes and Genomic Entities
  2. BAAT

BAAT

bile acid-CoA:amino acid N-acyltransferase
OMIM: 602938, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green BAAT in Cholestasis


Level 2: Gastroenterological disorders
Version 1.5

Component of the following Super Panels:

  • Liverome Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bile acid conjugation defect 1, MIM# 619232

    Green BAAT in Mendeliome


    Version 1.3512

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bile acid conjugation defect 1, MIM# 619232

    Green BAAT in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Bile acid amidation defect

    Green BAAT in Miscellaneous Metabolic Disorders


    Level 2: Metabolic disorders
    Version 1.57

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews 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

    Red BAAT in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Bile acid conjugation defect 1, MIM# 619232