| Panel | Mode of inheritance | Details |
|---|---|---|
5 panels | ||
R-numbers: R135 Signed-off version 2.2 | 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 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 3.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MALONYL-COA DECARBOXYLASE DEFICIENCY 167676 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 2.1 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MALONYL-COA DECARBOXYLASE DEFICIENCY |
Green in Inborn errors of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 3.2 | 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 Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Malonyl-CoA decarboxylase deficiency, 248360, MALONYL-COA DECARBOXYLASE DEFICIENCY |