1. Genes and Genomic Entities
  2. TPP1

TPP1

tripeptidyl peptidase 1
OMIM: 607998, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels
Red TPP1 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.21

review Not set
Sources
  • Emory Genetics Laboratory
Red TPP1 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders
Green TPP1 in Ataxia and cerebellar anomalies - narrow panel


Version 4.64
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Autosomal recessive spinocerebellar ataxia 7 (#607998)
    • Neuronal ceroid lipfuscinosis 7 (204500)
    Green TPP1 in Lysosomal storage disorder


    Version 3.3
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • North London GLH
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 2 OMIM:204500
    • neuronal ceroid lipofuscinosis 2 MONDO:0008769
    Green TPP1 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 2, 204500
    • Spinocerebellar ataxia, autosomal recessive 7, 609270
    Green TPP1 in Neuronal ceroid lipofuscinosis


    Version 2.6
    Latest signed off version: v2.0 (22 Mar 2023)

    		review 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
    Red TPP1 in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 2, 204500
    • Spinocerebellar ataxia, autosomal recessive 7, 609270
    Green TPP1 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Literature
    Phenotypes
    • CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal)
    • Hereditary ataxia
    • Intellectual disability
    • Ceroid lipofuscinosis, neuronal, 2 204500
    Green TPP1 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Intellectual disability
    • Ceroid lipofuscinosis, neuronal, 2
    • CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal)
    • Hereditary ataxia
    Red TPP1 in Fetal anomalies


    Version 3.157
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • NEURONAL CEROID LIPOFUSCINOSIS TYPE 2
    Green TPP1 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 204500
    Green TPP1 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.195
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 2 204500
    Green TPP1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 2, 204500
    • NEURONAL CEROID LIPOFUSCINOSIS TYPE 2 (CLN2)
    Green TPP1 in Hereditary ataxia with onset in adulthood


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Autosomal recessive spinocerebellar ataxia 7, 609270
    • Ceroid lipofuscinosis, neuronal, 2, 204500
    • Spinocerebellar ataxia, autosomal recessive 7, 609270
    • Neuronal ceroid lipofuscinosis, 204500
    Green TPP1 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Eye Disorders
    • Ceroid lipofuscinosis, neuronal, 2, 204500
    Red TPP1 in Structural eye disease


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500
    • Eye Disorders
    Amber TPP1 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • Expert Review Amber
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 7, 609270
    Green TPP1 in Severe Paediatric Disorders


    Version 1.184

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ceroid lipofuscinosis, neuronal, 2, 204500
    • Spinocerebellar ataxia, autosomal recessive 7, 609270
    Green TPP1 in Neuronal ceroid lipofuscinosis type 2


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS