This Panel is marked as Internal
Dystonia - childhood onset
Gene: PCCA
PCCA (propionyl-CoA carboxylase alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000175198
EnsemblGeneIds (GRCh37): ENSG00000175198
OMIM: 232000, Gene2Phenotype
PCCA is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000175198
EnsemblGeneIds (GRCh37): ENSG00000175198
OMIM: 232000, Gene2Phenotype
PCCA is in 12 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Propionicacidemia 606054
- OMIM
- 232000
- Clinvar variants
- Variants in PCCA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Structural basal ganglia disorders
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Adult onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Fetal anomalies
- Early onset or syndromic epilepsy
- DDG2P
- Hyperammonaemia
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PCCA was added gene: PCCA was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCCA were set to 6790853; 15235904 Phenotypes for gene: PCCA were set to Propionicacidemia 606054