Syndromic Retinopathy

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Retinal degeneration is part of the phenotype.
Sources: Expert Review
Created: 9 Oct 2020, 10:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 2, OMIM #204500

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

History Filter Activity

9 Oct 2020, 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).

9 Oct 2020, 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).

9 Oct 2020, Gel status: 1

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 Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2, OMIM #204500 Review for gene: TPP1 was set to GREEN