Dystonia - isolated/combined
Gene: PARK7EnsemblGeneIds (GRCh38): ENSG00000116288
EnsemblGeneIds (GRCh37): ENSG00000116288
OMIM: 602533, Gene2Phenotype
PARK7 is in 5 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Dystonia reported in 46% (14/30) of cases with PARK7-related PD. Dystonia plus parkinsonism can be classified as combined dystonia.
Sources: Expert listCreated: 6 Apr 2020, 3:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson disease 7, autosomal recessive early-onset MIM#606324
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Parkinson disease 7, autosomal recessive early-onset MIM#606324
- OMIM
- 602533
- Clinvar variants
- Variants in PARK7
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: park7 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: park7 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PARK7 was added gene: PARK7 was added to Dystonia - isolated/combined. Sources: Expert list Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARK7 were set to 29644727 Phenotypes for gene: PARK7 were set to Parkinson disease 7, autosomal recessive early-onset MIM#606324 Review for gene: PARK7 was set to GREEN