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Childhood onset dystonia or chorea or related movement disorder

Gene: PARK7

Red List (low evidence)

PARK7 (Parkinsonism associated deglycase)
EnsemblGeneIds (GRCh38): ENSG00000116288
EnsemblGeneIds (GRCh37): ENSG00000116288
OMIM: 602533, Gene2Phenotype
PARK7 is in 7 panels

1 review

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

According to PMID 29644727 dystonia is a relatively common feature with PD associated with this gene (46% of cases, but n=30 only). 30363821 had a patient with onset age 16. 16240358 describes three brothers, age of onset 20s-30s.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PanelApp
  • South West GLH
Phenotypes
  • Parkinson disease 7, autosomal recessive early-onset
OMIM
602533
Clinvar variants
Variants in PARK7
Penetrance
None
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Added New Source, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to PARK7. Added phenotypes Parkinson disease 7, autosomal recessive early-onset for gene: PARK7

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PARK7 was added gene: PARK7 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PARK7 were set to Parkinson disease 7, autosomal recessive early-onset