1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. PARK7
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: PARK7

Green List (high evidence)
PARK7 (Parkinsonism associated deglycase)
EnsemblGeneIds (GRCh38): ENSG00000116288
EnsemblGeneIds (GRCh37): ENSG00000116288
OMIM: 602533, Gene2Phenotype
PARK7 is in 6 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.
Created: 23 Apr 2019, 1:19 p.m.

Panel version: 0.54

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.53

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Parkinson disease 7, autosomal recessive early-onset, OMIM:606324
OMIM
602533
Clinvar variants
Variants in PARK7
Penetrance
None
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PARK7 were changed from 606324; Parkinson disease 7 autosomal recessive early-onset to Parkinson disease 7, autosomal recessive early-onset, OMIM:606324

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to PARK7.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to PARK7.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PARK7 was added gene: PARK7 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PARK7 were set to 606324; Parkinson disease 7 autosomal recessive early-onset