MLYCD

malonyl-CoA decarboxylase
OMIM: 606761, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green MLYCD in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 1.14 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Malonyl-CoA decarboxylase deficiency, MIM# 248360 Tags treatable
Green MLYCD in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Malonyl-CoA decarboxylase deficiency, MIM# 248360 Tags treatable
Green MLYCD in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genetic Health Queensland Phenotypes Malonyl-CoA decarboxylase deficiency, MIM# 248360 Tags treatable
Green MLYCD in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Malonyl-CoA decarboxylase deficiency, 248360 (3)
Green MLYCD in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes malonic aciduria 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism) Malonic aciduria Malonyl-CoA decarboxylase deficiency (Organic acidurias) Mild clinical features. Developmental delay, epilepsy Malonyl-CoA decarboxylase deficiency HCM Hypertrophic-hypocontractile cardiomyopathy Tags treatable
Green MLYCD in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Malonyl-CoA decarboxylase deficiency
Green MLYCD in Hyperammonaemia Level 2: Metabolic disorders Version 0.10 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Expert Review Green Victorian Clinical Genetics Services Phenotypes Malonyl-CoA decarboxylase deficiency 248360 malonic aciduria Tags treatable
Green MLYCD in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Malonyl-CoA decarboxylase deficiency, MIM# 248360
Green MLYCD in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Malonyl-CoA decarboxylase deficiency, 248360 (3)
Green MLYCD in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene Phenotypes Malonyl-CoA decarboxylase deficiency, MIM# 248360 Tags treatable metabolic
Green MLYCD in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Malonyl-CoA decarboxylase deficiency, 248360 (3)