Early onset dementia (encompassing fronto-temporal dementia and prion disease)Gene: JPH3
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 9 Nov 2021, 4:38 p.m. | Last Modified: 9 Nov 2021, 4:38 p.m.
Panel Version: 1.60
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
Huntington disease-like 2 606438
Mode of pathogenicity
Mode of inheritance for gene: JPH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Phenotypes for gene: JPH3 were changed from Huntington disease-like 2 606438 to Huntington disease-like 2, OMIM:606438
JPH3 was created by arianna
JPH3 was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease)panel. Sources: Expert Review