Neuronal ceroid lipofuscinosis
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
Emma Ashton (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- 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
- DDG2P
- Neuronal ceroid lipofuscinosis
- 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
- Early onset or syndromic epilepsy
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
17 Mar 2021, Gel status: 3
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2 OMIM:204500; neuronal ceroid lipofuscinosis 2 MONDO:0008769
13 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: TPP1 was added gene: TPP1 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal