1. Panels
  2. BRIDGE_SPEED_NEURO_v2.0_20160416
  3. PNKD
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BRIDGE_SPEED_NEURO_v2.0_20160416

Gene: PNKD

Red List (low evidence)
PNKD (paroxysmal nonkinesigenic dyskinesia)
EnsemblGeneIds (GRCh38): ENSG00000127838
EnsemblGeneIds (GRCh37): ENSG00000127838
OMIM: 609023, Gene2Phenotype
PNKD is in 8 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

manju_list; neuro_20160418_strict; NA
Created: 7 Feb 2017, 4:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Paroxysmal nonkinesigenic dyskinesia, 118800

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:46 p.m.

Panel version: 0.2

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia, 118800
OMIM
609023
Clinvar variants
Variants in PNKD
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PNKD was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PNKD was added to BRIDGE_SPEED_NEURO_v2.0_20160416panel. Sources: BRIDGE