Glaucoma (developmental)
Gene: TPP1
TPP1 (tripeptidyl peptidase 1)
EnsemblGeneIds (GRCh38): ENSG00000166340
EnsemblGeneIds (GRCh37): ENSG00000166340
OMIM: 607998, Gene2Phenotype
TPP1 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000166340
EnsemblGeneIds (GRCh37): ENSG00000166340
OMIM: 607998, Gene2Phenotype
TPP1 is in 18 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEROID LIPOFUSCINOSIS, NEURONAL, 2; 204500
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 607998
- Clinvar variants
- Variants in TPP1
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Neuronal ceroid lipofuscinosis type 2
- Hereditary ataxia with onset in adulthood
- Neuronal ceroid lipofuscinosis
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Fetal anomalies
- Lysosomal storage disorder
- Retinal disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Glaucoma (developmental)
- Structural eye disease
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
11 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)TPP1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory