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  2. Likely inborn error of metabolism
  3. BAAT
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Likely inborn error of metabolism

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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

5 variants reported in at least 9 families. One variant in 5 families (2 hmz, 2 htz with htz TJP2 p.V48A, 1 hmz for BAAT and htz for TJP2 p.V48A)
Created: 23 Feb 2017, 5:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid amidation defect (Disorders of bile acid biosynthesis)

Publications

Created: 23 Feb 2017, 5:12 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

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

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to BAAT. Source London North GLH was added to BAAT.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 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 Inborn errors of metabolism. 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