Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.9
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections)
- Propionicacidemia
- Propionic acidemia
|
Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.39
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Propionic aciduria (Organic acidurias)
- as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections)
- Propionicacidemia
- Propionic acidemia
- Propionicacidemia 606054
|
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
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections)
- Propionic acidemia
- Propionicacidemia 606054
- Propionicacidemia
- Propionic aciduria (Organic acidurias)
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
|
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
- PROPIONIC ACIDEMIA 606054
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
Latest signed off version: v4.0
(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
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
|
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
- Victorian Clinical Genetics Services
- Expert Review Green
Phenotypes
|
Version 3.18
Latest signed off version: v3.12
(31 Jul 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- NHS GMS
- London North GLH
Phenotypes
|
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
- South West GLH
- MetBioNet
- Expert Review Green
- MetBioNet
- South West GLH
- Expert Review Green
Phenotypes
- as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections)
- DCM
- Hypertrophic-hypocontractile cardiomyopathy
- Dehydration, hepatomegaly, lethargy, coma, acidosis, high anion gap
- Propionicacidemia
- Propionic aciduria
- Propionicacidemia 606054
- Propionic acidemia
- Propionic aciduria (Organic acidurias)
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PanelApp
- Expert Review Green
- London North GLH
Phenotypes
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Propionicacidemia, 606054
|