Hyperammonaemia
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
2 reviews
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 2
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 607998
- Clinvar variants
- Variants in TPP1
- Penetrance
- Complete
- Panels with this gene
-
- Early onset or syndromic epilepsy
- Hereditary ataxia with onset in adulthood
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Hereditary ataxia
- Lysosomal storage disorder
- Neuronal ceroid lipofuscinosis
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Intellectual disability
- Retinal disorders
- Neuronal ceroid lipofuscinosis type 2
- Ataxia and cerebellar anomalies - narrow panel
- Glaucoma (developmental)
- Structural eye disease
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)TPP1 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory