Hyperammonaemia
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
3 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Propionic acidaemia
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 18 Aug 2016, 12:45 p.m.
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- Propionicacidemia 606054
- OMIM
- 232000
- Clinvar variants
- Variants in PCCA
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Adult onset dystonia, chorea or related movement disorder
- DDG2P
- Ketotic hypoglycaemia
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Hyperammonaemia
- Fetal anomalies
History Filter Activity
22 Nov 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
18 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
18 Aug 2016, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PCCA were set to Propionicacidemia 606054
18 Aug 2016, Gel status: 4
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PCCA was changed to BIALLELIC, autosomal or pseudoautosomal
18 Aug 2016, Gel status: 4
Upload gene information
Sarah Leigh (Genomics England Curator)PCCA was added to Hyperammonaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)PCCA was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory