1. Panels
  2. GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
  3. PARK7
STRs in panel
Prev Next
Regions in panel
Prev Next

GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

Gene: PARK7

Red List (low evidence)
PARK7 (Parkinsonism associated deglycase)
EnsemblGeneIds (GRCh38): ENSG00000116288
EnsemblGeneIds (GRCh37): ENSG00000116288
OMIM: 602533, Gene2Phenotype
PARK7 is in 6 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
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
  • Expert Review Red
  • 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

9 Jul 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene PARK7 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Parkinson disease 7, autosomal recessive early-onset for gene: PARK7

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to PARK7.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: PARK7 was added gene: PARK7 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: PARK7 was set to