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Severe Paediatric Disorders

Gene: TPP1

Green List (high evidence)

TPP1 (tripeptidyl peptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000166340
EnsemblGeneIds (GRCh37): ENSG00000166340
OMIM: 607998, Gene2Phenotype
TPP1 is in 18 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TPP1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Ceroid lipofuscinosis, neuronal, 2, 204500 (3) | Spinocerebellar ataxia, autosomal recessive 7, 609270 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:26 p.m. | Last Modified: 20 Feb 2020, 5:26 p.m.
Panel Version: 0.12

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TPP1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270 for gene: TPP1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270 for gene: TPP1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270 for gene: TPP1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Spinocerebellar ataxia, autosomal recessive 7, 609270; Ceroid lipofuscinosis, neuronal, 2, 204500 for gene: TPP1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270 for gene: TPP1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TPP1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TPP1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TPP1 was added gene: TPP1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TPP1 was set to