Early onset dementia (encompassing fronto-temporal dementia and prion disease)
Gene: PPIA
PPIA (peptidylprolyl isomerase A)
EnsemblGeneIds (GRCh38): ENSG00000196262
EnsemblGeneIds (GRCh37): ENSG00000196262
OMIM: 123840, Gene2Phenotype
PPIA is in 1 panel
EnsemblGeneIds (GRCh38): ENSG00000196262
EnsemblGeneIds (GRCh37): ENSG00000196262
OMIM: 123840, Gene2Phenotype
PPIA is in 1 panel
1 review
Zornitza Stark (Australian Genomics)
Paper characterizes a knockout mouse model that recapitulates key features of ALS-FTD. Also identified a heterozygous missense variant in one patient with sporadic amyotrophic lateral sclerosis. Functional studies of the missense variant suggest loss-of-function.
Sources: LiteratureCreated: 3 Feb 2022, 8:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
amyotrophic lateral sclerosis, MONDO:0004976
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- amyotrophic lateral sclerosis, MONDO:0004976
- OMIM
- 123840
- Clinvar variants
- Variants in PPIA
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Feb 2022, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: PPIA was added gene: PPIA was added to Early onset dementia (encompassing fronto-temporal dementia and prion disease). Sources: Literature Mode of inheritance for gene: PPIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PPIA were set to 34972208 Phenotypes for gene: PPIA were set to amyotrophic lateral sclerosis, MONDO:0004976 Review for gene: PPIA was set to RED