Genomics England
GMS Panels
Panels
Genes and Entities

ACSF3

acyl-CoA synthetase family member 3
OMIM: 614245
PanelMode of inheritanceDetails
1 panel
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 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined methylmalonic and malonic aciduria (Organic acidurias), Combined malonic and methylmalonic aciduria