Genomics England
GMS Panels
Panels
Genes and Entities

ACAT1

acetyl-CoA acetyltransferase 1
OMIM: 607809
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ALPHA-METHYLACETOACETIC ACIDURIA 203750
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
Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism), Fasting intolerance with acidosis, ? residual neurological problems, 3-Oxothiolase deficiency (Organic acidurias)