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  3. PRKN
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BRIDGE_SPEED_NEURO_20170705

Gene: PRKN

Green List (high evidence)
PRKN (parkin RBR E3 ubiquitin protein ligase)
EnsemblGeneIds (GRCh38): ENSG00000185345
EnsemblGeneIds (GRCh37): ENSG00000185345
OMIM: 602544, Gene2Phenotype
PRKN is in 6 panels

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_movement_disorder_list;in_UKGTN_v12 . Main mutation mechanism : NA
Created: 28 Jul 2017, 10:30 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Personal communication with NIHRBRRD BRIDGE SPEED
  • Version 12 ukgtn.nhs.uk

Created: 2 Aug 2017, 5:41 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 1:14 p.m.
Created: 31 Jul 2017, 1:14 p.m.

Panel version: 0.117

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Parkinson disease, juvenile, type 2, 600116
  • Adenocarcinoma of lung, somatic, 211980
  • Adenocarcinoma, ovarian, somatic, 167000
  • {Leprosy, susceptibility to}, 607572
OMIM
602544
Clinvar variants
Variants in PRKN
Penetrance
Complete
Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 3

Changed Gene Name

GEL ()

PARK2 was changed to PRKN

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PARK2 were set to Parkinson disease, juvenile, type 2, 600116; Adenocarcinoma of lung, somatic, 211980; Adenocarcinoma, ovarian, somatic, 167000; {Leprosy, susceptibility to}, 607572

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

PARK2 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PARK2 was created by LouiseD