Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- malonic aciduria
- Malonyl-CoA decarboxylase deficiency 248360
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Malonyl-CoA decarboxylase deficiency (Organic acidurias)
- 3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism)
- malonic aciduria
- Malonyl-CoA decarboxylase deficiency
|
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
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)
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MALONYL-COA DECARBOXYLASE DEFICIENCY
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MALONYL-COA DECARBOXYLASE DEFICIENCY 167676
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Malonyl-CoA decarboxylase deficiency, 248360
- MALONYL-COA DECARBOXYLASE DEFICIENCY
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- MetBioNet
- Expert Review Green
- MetBioNet
- Expert Review Green
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
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Malonyl-CoA decarboxylase deficiency, 248360
|