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Paroxysmal Dyskinesia

Gene: JPH3

Amber List (moderate evidence)
JPH3 (junctophilin 3)
EnsemblGeneIds (GRCh38): ENSG00000154118
EnsemblGeneIds (GRCh37): ENSG00000154118
OMIM: 605268, Gene2Phenotype
JPH3 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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

Created: 18 Feb 2023, 3:15 a.m.
Last Modified: 18 Feb 2023, 3:15 a.m.
Panel version: 0.104

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 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

Created: 13 Feb 2023, 1:28 a.m.

Panel version: 0.104

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • paroxysmal dystonia, intellectual disability
OMIM
605268
Clinvar variants
Variants in JPH3
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

18 Feb 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jph3 has been classified as Amber List (Moderate Evidence).

18 Feb 2023, Gel status: 2

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Feb 2023, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jph3 has been classified as Amber List (Moderate Evidence).

13 Feb 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

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