Ataxia - paediatric
Gene: PNKD
Paroxysmal nonkinesigenic dyskinesia-1 (PNKD1) is an autosomal dominant movement disorder characterized by attacks of dystonia, chorea, and athetosis. Attacks may be precipitated by stress, fatigue, caffeine, alcohol, ovulation, or menstruation, and may last minutes to hours. More than 5 unrelated families reported. Incomplete penetrance.Created: 29 Apr 2021, 12:53 a.m. | Last Modified: 29 Apr 2021, 12:53 a.m.
Panel Version: 0.7412
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; MONDO:0007326
Publications
Condition has many overlapping features with episodic ataxia.
Sources: Expert listCreated: 16 Jan 2020, 10:51 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Paroxysmal nonkinesigenic dyskinesia 1, 118800
Gene: pnkd has been classified as Green List (High Evidence).
Gene: pnkd has been classified as Green List (High Evidence).
gene: PNKD was added gene: PNKD was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PNKD were set to Paroxysmal nonkinesigenic dyskinesia 1, 118800 Review for gene: PNKD was set to GREEN