Dystonia - childhood onset

Gene: PINK1

Green List (high evidence)

PINK1 (PTEN induced putative kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000158828
EnsemblGeneIds (GRCh37): ENSG00000158828
OMIM: 608309, Gene2Phenotype
PINK1 is in 8 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 Phenotypes

Eleanor Williams (Genomics England Curator)

gene: PINK1 was added gene: PINK1 was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PINK1 were set to Parkinson disease 6, early onset; Dystonia