Early onset dementia (encompassing fronto-temporal dementia and prion disease)

Gene: JPH3

Red List (low evidence)

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

1 review

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

the mutation is expanded CAG/CTG repeat. normal alleles contain 6 to 28 repeats, whereas pathogenic alleles contain over 41 repeats
Created: 24 May 2017, 12:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Huntington disease-like 2 606438

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
Phenotypes
  • Huntington disease-like 2 606438
Tags
nucleotide-repeat-expansion currently-ngs-unreportable
OMIM
605268
Clinvar variants
Variants in JPH3
Penetrance
Complete
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

24 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

JPH3 was created by arianna

24 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

JPH3 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Expert Review