Syndromic Retinopathy
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)
Retinal degeneration is part of the phenotype.
Sources: Expert ReviewCreated: 9 Oct 2020, 10:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 2, OMIM #204500
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
- Expert Review
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 2, OMIM #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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tpp1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: tpp1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TPP1 was added gene: TPP1 was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2, OMIM #204500 Review for gene: TPP1 was set to GREEN