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Neuronal ceroid lipofuscinosis type 2
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
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #204500) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 11:12 a.m. | Last Modified: 29 Dec 2025, 11:12 a.m.
Panel Version: 1.2
TPP1 has been added to the panel for R271 Neuronal ceroid lipofuscinosis type 2 with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:03 p.m. | Last Modified: 30 Jun 2023, 3:03 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 2, OMIM:204500
- neuronal ceroid lipofuscinosis 2, MONDO:0008769
- OMIM
- 607998
- Clinvar variants
- Variants in TPP1
- Penetrance
- None
- Panels with this gene
-
- Neuronal ceroid lipofuscinosis type 2
- Early onset or syndromic epilepsy
- DDG2P
- Neuronal ceroid lipofuscinosis
- Intellectual disability
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Hereditary ataxia
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, OMIM:204500; neuronal ceroid lipofuscinosis 2, MONDO:0008769
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: TPP1 was added gene: TPP1 was added to Neuronal ceroid lipofuscinosis type 2. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal