Paroxysmal Dyskinesia
Gene: JPH3
Two families reported with bi-allelic variants and neurodevelopmental disorder involving paroxysmal dystonia. One family with mono-allelic variant, milder.
Note STRs in this gene cause a separate disorder.Created: 18 Feb 2023, 3:15 a.m. | Last Modified: 18 Feb 2023, 3:15 a.m.
Panel Version: 0.104
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder, MONDO:0700092, JPH3-related
Publications
Sources: LiteratureCreated: 13 Feb 2023, 1:28 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
paroxysmal dystonia, intellectual disability
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene: jph3 has been classified as Amber List (Moderate Evidence).
Mode of pathogenicity for gene: JPH3 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Gene: jph3 has been classified as Amber List (Moderate Evidence).
gene: JPH3 was added gene: JPH3 was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: JPH3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: JPH3 were set to PMID: 36273396 Phenotypes for gene: JPH3 were set to paroxysmal dystonia, intellectual disability Penetrance for gene: JPH3 were set to unknown Mode of pathogenicity for gene: JPH3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: JPH3 was set to GREEN