This Panel is marked as Deleted
Immunological disorders_SuperPanel_PanelAppAustralia
Gene: TPP1
TPP1 (tripeptidyl peptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000166340
EnsemblGeneIds (GRCh37): ENSG00000166340
OMIM: 607998, Gene2Phenotype
TPP1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000166340
EnsemblGeneIds (GRCh37): ENSG00000166340
OMIM: 607998, Gene2Phenotype
TPP1 is in 18 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- OMIM
- 607998
- Clinvar variants
- Variants in TPP1
- Penetrance
- None
- Panels with this gene
-
- Lysosomal storage disorder
- Likely inborn error of metabolism
- Intellectual disability
- Adult onset neurodegenerative disorder
- Neuronal ceroid lipofuscinosis type 2
- Retinal disorders
- Neuronal ceroid lipofuscinosis
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Childhood onset dystonia, chorea or related movement disorder
- Structural eye disease
- Ataxia and cerebellar anomalies - narrow panel
- Hereditary ataxia with onset in adulthood
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- Hereditary ataxia
- Glaucoma (developmental)
History Filter Activity
7 Apr 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Rebecca Foulger (Genomics England curator)gene: TPP1 was added gene: TPP1 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TPP1 was set to Unknown