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  2. Early-onset Dementia
  3. PPIA
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Early-onset Dementia

Gene: PPIA

Red List (low evidence)
PPIA (peptidylprolyl isomerase A)
EnsemblGeneIds (GRCh38): ENSG00000196262
EnsemblGeneIds (GRCh37): ENSG00000196262
OMIM: 123840, Gene2Phenotype
PPIA is in 2 panels

1 review

Seb Lunke (Victorian Clinical Genetics Services)

Red List (low evidence)

Sources: Literature
Created: 7 Jan 2022, 4:33 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
amyotrophic lateral sclerosis, MONDO:0004976

Publications

Created: 7 Jan 2022, 4:33 a.m.

Panel version: 0.152

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • amyotrophic lateral sclerosis, MONDO:0004976, PPIA-associated
OMIM
123840
Clinvar variants
Variants in PPIA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: ppia has been classified as Red List (Low Evidence).

7 Jan 2022, Gel status: 1

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: PPIA were changed from amyotrophic lateral sclerosis, MONDO:0004976 to amyotrophic lateral sclerosis, MONDO:0004976, PPIA-associated

7 Jan 2022, Gel status: 1

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: PPIA was added gene: PPIA was added to Early-onset Dementia. 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