Genetic Epilepsy
Gene: TPP1

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Over 300 families reported, mutational spectrum reviewed in PMID 31283065. Two known pathogenic variants, c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occurred in 60% of affected individuals in the sample, and accounted for 50% of disease-associated alleles.
Created: 14 Apr 2021, 4:09 a.m. | Last Modified: 14 Apr 2021, 4:09 a.m.

Panel Version: 0.7161

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769

Publications

Created: 14 Apr 2021, 4:09 a.m.
Last Modified: 14 Apr 2021, 4:09 a.m.
Panel version: 0.2772

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

These phenotypes can be considered part of the same phenotypic spectrum which goes from classic late infantile CLN2 to forms of atypical CLN2 disease, including SCAR7 (PMID: 31283065).
Created: 4 Aug 2020, 7:50 a.m. | Last Modified: 4 Aug 2020, 7:50 a.m.

Panel Version: 0.3684

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 2 204500; Spinocerebellar ataxia, autosomal recessive 7 609270

Publications

31283065

Created: 4 Aug 2020, 7:50 a.m.
Last Modified: 4 Aug 2020, 7:50 a.m.
Panel version: Imported from Mendeliome panel version 0.3684

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship
Victorian Clinical Genetics Services

Phenotypes

Ceroid lipofuscinosis, neuronal, 2, MIM# 204500
MONDO:0008769

OMIM

607998

Clinvar variants

Variants in TPP1

Penetrance

None

Publications

Panels with this gene