Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: JPH3
JPH3 (junctophilin 3)
EnsemblGeneIds (GRCh38): ENSG00000154118
EnsemblGeneIds (GRCh37): ENSG00000154118
OMIM: 605268, Gene2Phenotype
JPH3 is in 6 panels
EnsemblGeneIds (GRCh38): ENSG00000154118
EnsemblGeneIds (GRCh37): ENSG00000154118
OMIM: 605268, Gene2Phenotype
JPH3 is in 6 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 9 Nov 2021, 4:38 p.m. | Last Modified: 9 Nov 2021, 4:38 p.m.
Panel Version: 1.60
Arianna Tucci (Genomics England Curator)
the mutation is expanded CAG/CTG repeat. normal alleles contain 6 to 28 repeats, whereas pathogenic alleles contain over 41 repeatsCreated: 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
- Other
- Sources
-
- Expert Review
- Phenotypes
-
- Huntington disease-like 2, OMIM:606438
- Tags
- 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
9 Nov 2021, Gel status: 1
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: JPH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
9 Nov 2021, Gel status: 1
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: JPH3 were changed from Huntington disease-like 2 606438 to Huntington disease-like 2, OMIM:606438
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