Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
- Glutaric acidemia IIB, OMIM:231680
- multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.48
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Hypotonic infant
Other rare neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Literature
- UKGTN
Phenotypes
- Glutaric acidemia IIB, OMIM:231680
- multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
|
Version 19.201
Latest signed off version: v19.1
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
|
Version 0.36
|
review
|
Not set
|
Sources
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Expert list
Phenotypes
- Glutaric acidemia IIB 231680
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Glutaric acidemia IIB, OMIM:231680
- multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
|
Version 4.134
Latest signed off version: v4.0
(22 Mar 2023)
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
- NHS GMS
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Glutaric acidemia IIB, OMIM:231680
- multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
|
Version 3.103
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Glutaric acidemia IIB ,231680
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Glutaric acidemia IIB, OMIM:231680
- multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- Glutaric acidemia IIB, OMIM:231680
- multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Glutaric acidemia IIB, OMIM:231680
- multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 4.167
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Glutaric acidemia IIB, OMIM:231680
- multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
|
Version 3.43
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Red
- MetBioNet
- MetBioNet
Phenotypes
- Glutaric acidemia IIB
- Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II)
- Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia
- Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)
- HCM
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Glutaric acidemia IIB, OMIM:231680
- multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.18
Latest signed off version: v1.7
(31 May 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Glutaric acidemia IIB, OMIM:231680
- multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
|