Dystonia - childhood onset

Gene: PCCA

Green List (high evidence)

PCCA (propionyl-CoA carboxylase alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000175198
EnsemblGeneIds (GRCh37): ENSG00000175198
OMIM: 232000, Gene2Phenotype
PCCA is in 12 panels

0 reviews

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