TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119455956
rs119455956
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0022340
Disease:
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.010 GeneticVariation BEFREE Association of the R447H mutation with a delayed onset form of LINCL in two separate families raised the question of whether R447H CLN2 retains residual activity. 11462245 2001
dbSNP: rs1184563885
rs1184563885
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0022340
Disease:
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.010 GeneticVariation BEFREE A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children. 10862088 2000
dbSNP: rs119455955
rs119455955
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0022340
Disease:
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.030 GeneticVariation BEFREE Collectively, these assessments indicate that the Cln2R207X/R207X mouse is a valid CLN2 disease model which can be used for the preclinical evaluation of all therapeutic approaches including mutation guided therapies. 28464005 2017
dbSNP: rs119455955
rs119455955
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0022340
Disease:
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.030 GeneticVariation BEFREE R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis. 12950156 2003
dbSNP: rs119455955
rs119455955
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0022340
Disease:
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.030 GeneticVariation BEFREE The previously reported nonsense mutation, 636 C-->T leading to R208stop, was found in 31% (5/16) of the cases, including one homozygote and accounted for 19% (6/32) of LINCL chromosomes. 9788728 1998
dbSNP: rs796053439
rs796053439
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		C 0.700 GeneticVariation CLINVAR Genomic diagnosis for children with intellectual disability and/or developmental delay. 28554332 2017
dbSNP: rs202189057
rs202189057
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593 2016
dbSNP: rs119455954
rs119455954
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. 26075876 2015
dbSNP: rs1424116749
rs1424116749
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		C 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs1554902052
rs1554902052
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		C 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs1554902052
rs1554902052
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		C 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs786204553
rs786204553
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		A 0.700 GeneticVariation CLINVAR A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis. 26032578 2015
dbSNP: rs119455955
rs119455955
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
dbSNP: rs121908202
rs121908202
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 CausalMutation CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810 2013
dbSNP: rs202189057
rs202189057
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		T 0.700 GeneticVariation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
dbSNP: rs202189057
rs202189057
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
dbSNP: rs202189057
rs202189057
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810 2013
dbSNP: rs202189057
rs202189057
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		T 0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810 2013
dbSNP: rs398122959
rs398122959
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		C 0.700 CausalMutation CLINVAR Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). 23418007 2013
dbSNP: rs56144125
rs56144125
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		G 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563 2013
dbSNP: rs56144125
rs56144125
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		T 0.700 CausalMutation CLINVAR Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. 22832778 2013
dbSNP: rs746085696
rs746085696
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		G 0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810 2013
dbSNP: rs750428882
rs750428882
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0036572
Disease:
Seizures 		A 0.700 GeneticVariation CLINVAR Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood. 24091540 2013
dbSNP: rs759080581
rs759080581
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0027877
Disease:
Neuronal Ceroid-Lipofuscinoses 		A 0.700 CausalMutation CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810 2013
dbSNP: rs763162812
rs763162812
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		A 0.700 CausalMutation CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810 2013