Combined Immunodeficiency

Gene: TPP1

Red List (low evidence)

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported with this severe dyskeratosis congenita phenotype. Gene has an established association with Ceroid lipofuscinosis, neuronal, 2, MIM# 204500, and with Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270, which are not associated with immunodeficiency.
Created: 12 Apr 2020, 3:45 a.m. | Last Modified: 12 Apr 2020, 3:45 a.m.
Panel Version: 0.148

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hoyeraal-Hreidarsson syndrome

Publications

History Filter Activity

12 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tpp1 has been classified as Red List (Low Evidence).

12 Apr 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TPP1 were changed from to Hoyeraal-Hreidarsson syndrome

12 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TPP1 were set to

12 Apr 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

12 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tpp1 has been classified as Red List (Low Evidence).

17 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 Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: TPP1 was set to Unknown