Structural eye disease
Gene: TPP1EnsemblGeneIds (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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500
- Eye Disorders
- OMIM
- 607998
- Clinvar variants
- Variants in TPP1
- Penetrance
- None
- Panels with this gene
-
- Neuronal ceroid lipofuscinosis type 2
- Retinal disorders
- DDG2P
- Neuronal ceroid lipofuscinosis
- Fetal anomalies
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Structural eye disease
- Hereditary ataxia
- Early onset or syndromic epilepsy
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TPP1. Mode of inheritance for gene TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes CEROID LIPOFUSCINOSIS, NEURONAL, 2, 204500 for gene: TPP1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: TPP1 was added gene: TPP1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: TPP1 was set to Phenotypes for gene: TPP1 were set to Eye Disorders