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BabyScreen+ newborn screening

Gene: TPP1

Green List (high evidence)

TPP1 (tripeptidyl peptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000166340
EnsemblGeneIds (GRCh37): ENSG00000166340
OMIM: 607998, Gene2Phenotype
TPP1 is in 16 panels

2 reviews

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

Tripeptidyl-peptidase 1 deficiency (synonym: CLN2 disease) is a rare, autosomal recessive, pediatric neurodegenerative disease resulting from pathogenic variants in the gene encoding lysosomal enzyme tripeptidyl peptidase 1 (TPP1).

Affected children are functionally normal until the age of 2 to 4 years and subsequently have seizures and delayed language acquisition followed by a rapid decline in motor, language, cognitive, and visual function over a period of 4 to 6 years and death by early adolescence.

A deficiency of TPP1 results in accumulation of lysosomal storage material that causes degenerative changes in neurons throughout the central nervous system and retina.

TPP! enzyme activity can be measured in WBC

Cerliponase alfa ERT prevents, halts, or slows clinical deterioration. It may end up being available through the lifesaving drugs program in due course

Also causes SCAR7 - onset generally after 5 yr, but some before then - not known if ERT will impact on the clinical course of this allelic disorder
Created: 24 Dec 2022, 3:31 a.m. | Last Modified: 24 Dec 2022, 3:31 a.m.
Panel Version: 0.1675

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neruodegeneration; seizures; loss of vision; loss of language

Publications

Lilian Downie (Victorian Clinical Genetics Services)

I don't know

Definitive gene disease association
Early onset neurodegenerate disease (from about age 2), seizures, ID, visual problems
Treatment: cerliponase alfa enzyme replacement (Brineura - approved in Australia since 2018) *worth checking this is actually available? Ask chloe?
Created: 29 Nov 2022, 3:37 a.m. | Last Modified: 29 Nov 2022, 3:37 a.m.
Panel Version: 0.1121

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease)

Publications

History Filter Activity

29 Nov 2022, Gel status: 3

Added Tag, Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: TPP1. Tag treatable tag was added to gene: TPP1. Tag metabolic tag was added to gene: TPP1.

29 Nov 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

29 Nov 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TPP1 were changed from Neuronal ceroid lipofuscinosis to Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease)

29 Nov 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TPP1 were set to

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPP1 was added gene: TPP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to Neuronal ceroid lipofuscinosis