Genomics England
GMS Panels
Panels
Genes and Entities

MLYCD

malonyl-CoA decarboxylase
OMIM: 606761
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MALONYL-COA DECARBOXYLASE DEFICIENCY 167676
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MALONYL-COA DECARBOXYLASE DEFICIENCY
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Malonyl-CoA decarboxylase deficiency, 248360, MALONYL-COA DECARBOXYLASE DEFICIENCY
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
Malonyl-CoA decarboxylase deficiency, malonic aciduria, Malonyl-CoA decarboxylase deficiency (Organic acidurias), 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism)
Green
in Paediatric or syndromic cardiomyopathy
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism), malonic aciduria, Hypertrophic-hypocontractile cardiomyopathy, Malonyl-CoA decarboxylase deficiency, Mild clinical features. Developmental delay, epilepsy, Malonic aciduria, Malonyl-CoA decarboxylase deficiency (Organic acidurias), HCM