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Genetic epilepsy syndromes

Gene: TPP1

Green List (high evidence)

TPP1 (tripeptidyl peptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000166340
EnsemblGeneIds (GRCh37): ENSG00000166340
OMIM: 607998, Gene2Phenotype
TPP1 is in 17 panels

8 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Associated with AR SCAR7 and AR neuronal ceroid lipofuscinosis. Only 2 variants in trhis gene reported in association with SCAR7. Lots of variants associated with the other phenotype where seizures are a common feaure.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
eroid lipofuscinosis, neuronal, 204500; Spinocerebellar ataxia, 609270

Publications

Sarah Leigh (Genomics England Curator)

Comment on list classification: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for Ceroid lipofuscinosis, neuronal, 2 204500 . At least 9 variants reported.
Created: 20 Jun 2018, 4:41 p.m.
Comment on phenotypes: Biallelic variants also associated with Spinocerebellar ataxia, autosomal recessive 7 609270
Created: 20 Jun 2018, 4:34 p.m.

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

"TTPI" was submitted by an expert, which is most likely to be this HGNC-approved symbol.
Created: 1 Jul 2015, 3:17 p.m.

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TPP1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TPP1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: "TTPI" was submitted by an exp

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to TPP1. Panel: Genetic Epilepsy Syndromes

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: tpp1 has been classified as Green List (High Evidence).

20 Jun 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TPP1 were set to 9295267; 10665500; 12414822; 17959406

20 Jun 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2 204500

20 Jun 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TPP1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

TPP1 was created by Sarah Leigh