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  2. Leukodystrophy - adult onset
  3. TPP2
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Leukodystrophy - adult onset

Gene: TPP2

Green List (high evidence)
TPP2 (tripeptidyl peptidase 2)
EnsemblGeneIds (GRCh38): ENSG00000134900
EnsemblGeneIds (GRCh37): ENSG00000134900
OMIM: 190470, Gene2Phenotype
TPP2 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

14 individuals with "TRIANGLE" (TPPII-related immunodeficiency,
autoimmunity, and neurodevelopmental delay with impaired glycolysis
and lysosomal expansion) syndrome are summarized in 25414442, where 4/14 presented in adulthood with white matter leasions mimicking multiple sclerosis.
Sources: Expert Review
Created: 24 Jan 2022, 5:27 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220

Publications

Created: 24 Jan 2022, 5:27 a.m.

Panel version: 0.118

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
OMIM
190470
Clinvar variants
Variants in TPP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TPP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tpp2 has been classified as Green List (High Evidence).

24 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tpp2 has been classified as Green List (High Evidence).

24 Jan 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPP2 was added gene: TPP2 was added to Leukodystrophy - adult onset. Sources: Expert Review Mode of inheritance for gene: TPP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TPP2 were set to 25414442 Phenotypes for gene: TPP2 were set to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220 Review for gene: TPP2 was set to GREEN