Genomics England

MLYCD

malonyl-CoA decarboxylase

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MALONYL-COA DECARBOXYLASE DEFICIENCY 167676
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	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 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Malonyl-CoA decarboxylase deficiency, 248360, MALONYL-COA DECARBOXYLASE DEFICIENCY
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 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 3.44	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