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  3. BAAT
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Molecular autopsy

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 7 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hypercholanemia, familial
OMIM
602938
Clinvar variants
Variants in BAAT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Hypercholanemia, familial for gene: BAAT

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: BAAT was added gene: BAAT was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BAAT were set to 27604308; 23415802 Phenotypes for gene: BAAT were set to Hypercholanemia, familial