Newborns main panel
Gene: TPP1

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Gene removed from study but not the pipeline.

Additional Information: A decision was made to remove this gene from the study. Variants should be ignored while the gene is being removed from the pipeline.
Created: 4 Mar 2026, 9:46 a.m. | Last Modified: 4 Mar 2026, 9:46 a.m.

Panel Version: 0.505

Created: 4 Mar 2026, 9:46 a.m.
Last Modified: 4 Mar 2026, 9:46 a.m.
Panel version: 0.505

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

TPP1 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.135

Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber

Phenotypes

Ceroid lipofuscinosis, neuronal, 2

Tags

special_consideration condition_removed

OMIM

607998

Clinvar variants

Variants in TPP1

Penetrance

None

Panels with this gene

History Filter Activity

4 Mar 2026, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: tpp1 has been classified as Amber List (Moderate Evidence).

4 Mar 2026, Gel status: 3

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: TPP1. Tag condition_removed tag was added to gene: TPP1.

14 Sep 2023, Gel status: 3