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Newborns main panel

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

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 23415802 (4 families) PMID: 12704386 (3 Amish families)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Bile acid conjugation defect 1
OMIM
602938
Clinvar variants
Variants in BAAT
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Bile acid conjugation defect 1 for gene: BAAT

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to BAAT. Added phenotypes Bile acid conjugation defect 1 for gene: BAAT Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to BAAT. Added phenotypes Bile acid conjugation defect 1 for gene: BAAT Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to BAAT. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: BAAT was added gene: BAAT was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BAAT were set to Bile acid conjugation defect 1