Likely inborn error of metabolism
Gene: TPP1

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

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotypes in OMIM and as a confirmed Developmental Disorder Gene / G2P for Ceroid lipofuscinosis, neuronal, 2 204500. At least 10 variants reported.
Created: 12 Jan 2017, 12:48 p.m.

Comment on phenotypes: Also associated with Spinocerebellar ataxia, autosomal recessive 7 609270
Created: 12 Jan 2017, 12:47 p.m.

Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual disability

Created: 6 Jan 2017, 2:04 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.15

Details

Mode of Inheritance

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

OMIM

607998

Clinvar variants

Variants in TPP1

Penetrance

None

Publications

27604308

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TPP1. Source London North GLH was added to TPP1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: TPP1 was added gene: TPP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPP1 were set to 27604308 Phenotypes for gene: TPP1 were set to Intellectual disability; Ceroid lipofuscinosis, neuronal, 2; CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal); Hereditary ataxia

Likely inborn error of metabolism Gene: TPP1