Adult onset dystonia, chorea or related movement disorder
Gene: PINK1EnsemblGeneIds (GRCh38): ENSG00000158828
EnsemblGeneIds (GRCh37): ENSG00000158828
OMIM: 608309, Gene2Phenotype
PINK1 is in 8 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 1:19 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Parkinson disease 6, early onset, OMIM:605909
- OMIM
- 608309
- Clinvar variants
- Variants in PINK1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: PINK1 were set to
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PINK1 were changed from Parkinson Disease 6, Autosomal Recessive Early-Onset; Parkinson disease 6, early onset, 605909; Dystonia to Parkinson disease 6, early onset, OMIM:605909
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to PINK1.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to PINK1.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PINK1 was added gene: PINK1 was added to Adult onset movement disorder. 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, Autosomal Recessive Early-Onset; Parkinson disease 6, early onset, 605909; Dystonia