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 - targeted testing not possible
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypercholanemia, familial