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Intellectual disability syndromic and non-syndromic

Gene: TPP1

Green List (high evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ID well documented with Ceroid lipofuscinosis, neuronal, 2
Created: 9 Dec 2019, 11:51 a.m. | Last Modified: 9 Dec 2019, 11:51 a.m.
Panel Version: 0.1062

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

History Filter Activity

14 Jan 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 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from TPP1. Source Expert list was added to TPP1. Mode of inheritance for gene TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were changed from to Ceroid lipofuscinosis, neuronal, 2, OMIM #204500; Spinocerebellar ataxia, autosomal recessive 7, OMIM #609270

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPP1 was added gene: TPP1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TPP1 was set to Unknown