HMGCL

3-hydroxymethyl-3-methylglutaryl-CoA lyase
OMIM: 613898
PanelMode of inheritanceDetails
5 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-COENZYME A LYASE DEFICIENCY 246450
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA lyase deficiency, 246450, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, HMGCLD
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
3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias), 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, HMG-CoA lyase deficiency, 246450, HMGCLD
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA lyase deficiency, 246450, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, HMGCLD, Intellectual disability
R-numbers: R62
Signed-off version 1.25
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA lyase deficiency, 246450