Genomics England
GMS Panels
Panels
Genes and Entities

HMGCL

3-hydroxymethyl-3-methylglutaryl-CoA lyase
OMIM: 613898
PanelMode of inheritanceDetails
5 panels
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 3.23
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA lyase deficiency, OMIM:246450, 3-hydroxy-3-methylglutaric aciduria, MONDO:0009520
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-HYDROXY-3-METHYLGLUTARYL-COENZYME A LYASE DEFICIENCY 246450
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA lyase deficiency, 246450, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, HMGCLD
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA lyase deficiency, 246450, 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency, HMGCLD, Intellectual disability
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 4.78
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