This Panel is marked as Deleted
Immunological disorders Victorian Clinical Genetics Services
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
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 607998
- Clinvar variants
- Variants in TPP1
- Penetrance
- None
- Panels with this gene
-
- Neuronal ceroid lipofuscinosis type 2
- Hereditary ataxia with onset in adulthood
- Neuronal ceroid lipofuscinosis
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Hereditary ataxia
- Fetal anomalies
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Intellectual disability
- Lysosomal storage disorder
- Retinal disorders
- Adult onset neurodegenerative disorder
- Glaucoma (developmental)
- Structural eye disease
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)TPP1 was added to Immunological disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)TPP1 was created by Sarah Leigh