Hereditary Spastic Paraplegia - paediatric
Gene: TPP1EnsemblGeneIds (GRCh38): ENSG00000166340
EnsemblGeneIds (GRCh37): ENSG00000166340
OMIM: 607998, Gene2Phenotype
TPP1 is in 16 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single case reported with complicated HSP. Cannot find evidence that spastic paraplegia is a prominent feature of the condition.Created: 19 Apr 2020, 11:24 a.m. | Last Modified: 19 Apr 2020, 11:25 a.m.
Panel Version: 0.76
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 2 MIM#204500
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- Ceroid lipofuscinosis neuronal 2, MIM#204500
- OMIM
- 607998
- Clinvar variants
- Variants in TPP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Combined Immunodeficiency
- Prepair 1000+
- BabyScreen+ newborn screening
- Lysosomal Storage Disorder
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Early-onset Parkinson disease
- Regression
- Progressive Myoclonic Epilepsy
- Additional findings_Paediatric
- Mendeliome
- Syndromic Retinopathy
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tpp1 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis neuronal 2 to Ceroid lipofuscinosis neuronal 2, MIM#204500
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: TPP1 were changed from Ceroid lipofuscinosis neuronal 2; complex hereditary spastic paraplegia to Ceroid lipofuscinosis neuronal 2
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TPP1 was added gene: TPP1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPP1 were set to 27217339 Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis neuronal 2; complex hereditary spastic paraplegia