Ataxia - paediatric
Gene: TPP1EnsemblGeneIds (GRCh38): ENSG00000166340
EnsemblGeneIds (GRCh37): ENSG00000166340
OMIM: 607998, Gene2Phenotype
TPP1 is in 16 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Over 300 families reported, mutational spectrum reviewed in PMID 31283065. Two known pathogenic variants, c.509-1 G>C and c.622 C>T (p.(Arg208*)), collectively occurred in 60% of affected individuals in the sample, and accounted for 50% of disease-associated alleles.Created: 14 Apr 2021, 4:09 a.m. | Last Modified: 14 Apr 2021, 4:09 a.m.
Panel Version: 0.7161
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 2, MIM# 204500; MONDO:0008769; Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270; MONDO:0012235
Publications
Michelle Torres (Victorian Clinical Genetics Services)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Autosomal recessive spinocerebellar ataxia 7, 609270
- Neuronal ceroid lipofuscinosis, 204500
- Spinocerebellar ataxia, autosomal recessive 7, 609270
- Ceroid lipofuscinosis, neuronal, 2, 204500
- OMIM
- 607998
- Clinvar variants
- Variants in TPP1
- Penetrance
- None
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: TPP1 was added gene: TPP1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to Autosomal recessive spinocerebellar ataxia 7, 609270; Neuronal ceroid lipofuscinosis, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270; Ceroid lipofuscinosis, neuronal, 2, 204500