HMGCS2

3-hydroxy-3-methylglutaryl-CoA synthase 2
OMIM: 600234
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE 2 DEFICIENCY 605911
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA synthase-2 deficiency