Structural basal ganglia disorders
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
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed G2P. At least 6 variants reported in at least 16 cases.Created: 6 Mar 2017, 4:16 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Propionicacidemia 606054
- OMIM
- 232000
- Clinvar variants
- Variants in PCCA
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- 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
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Ketotic hypoglycaemia
- Paediatric or syndromic cardiomyopathy
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
6 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
6 Mar 2017, Gel status: 0
Set publications
Sarah Leigh (Genomics England Curator)Publications for PCCA were set to 6790853; 15235904;
6 Mar 2017, Gel status: 0
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PCCA were set to Propionicacidemia 606054
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)PCCA was added to Structural basal ganglia disorderspanel. Sources: Literature
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)PCCA was created by Manju