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Early-onset Parkinson disease

Gene: JPH3

No list
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)

This is an STR disorder.
Created: 19 Jul 2022, 9:28 a.m. | Last Modified: 19 Jul 2022, 9:28 a.m.
Panel Version: 0.187
Created: 19 Jul 2022, 9:28 a.m.
Last Modified: 19 Jul 2022, 9:28 a.m.
Panel version: 0.187

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

Green List (high evidence)

Sources: Literature
Created: 17 Jul 2022, 3:19 p.m.

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

Phenotypes
Huntington Disease Like 2 (HDL2); Parkinsonism; Severe Dementia; OMIM 606438

Publications

Created: 17 Jul 2022, 3:19 p.m.

Panel version: 0.134

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
Phenotypes
  • Huntington Disease Like 2 (HDL2)
  • Parkinsonism
  • Severe Dementia
  • OMIM 606438
Tags
STR
OMIM
605268
Clinvar variants
Variants in JPH3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Jul 2022, Gel status: 0

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jph3 has been removed from the panel.

19 Jul 2022, Gel status: 0

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag STR tag was added to gene: JPH3.

17 Jul 2022, Gel status: 0

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

SHEKEEB MOHAMMAD (Children's Hospital at Westmead)

gene: JPH3 was added gene: JPH3 was added to Early-onset Parkinson disease. Sources: Literature Mode of inheritance for gene: JPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: JPH3 were set to PMID: 28131164 Phenotypes for gene: JPH3 were set to Huntington Disease Like 2 (HDL2); Parkinsonism; Severe Dementia; OMIM 606438 Review for gene: JPH3 was set to GREEN