Genomics England
GMS Panels
Panels
Genes and Entities

BAAT

bile acid-CoA:amino acid N-acyltransferase
OMIM: 602938
PanelMode of inheritanceDetails
2 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypercholanemia, Familial, fat soluble vitamin deficiency, Hypercholanemia, familial, 607748, cholestasis, Neonatal and Adult Cholestasis
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypercholanemia, familial