Retinal disorders
Gene: TPP1EnsemblGeneIds (GRCh38): ENSG00000166340
EnsemblGeneIds (GRCh37): ENSG00000166340
OMIM: 607998, Gene2Phenotype
TPP1 is in 18 panels
2 reviews
Catherine Snow (Genomics England)
TPP1 rated as Green as has a relevant phenotype to be included on the panel following discussion in Genomics England Clinical Team Meeting, 7th October 2019.Created: 7 Oct 2019, 4:20 p.m. | Last Modified: 7 Oct 2019, 4:20 p.m.
Panel Version: 1.187
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 2, 204500
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
CLN2 geneCreated: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Eye Disorders
- Ceroid lipofuscinosis, neuronal, 2, 204500
- OMIM
- 607998
- Clinvar variants
- Variants in TPP1
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Neuronal ceroid lipofuscinosis type 2
- Childhood onset dystonia, chorea or related movement disorder
- Neuronal ceroid lipofuscinosis
- Retinal disorders
- Structural eye disease
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Intellectual disability
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Early onset or syndromic epilepsy
- Hereditary ataxia
- Glaucoma (developmental)
- Lysosomal storage disorder
History Filter Activity
Set mode of inheritance
Catherine Snow (Genomics England)Mode of inheritance for gene: TPP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Catherine Snow (Genomics England)Phenotypes for gene: TPP1 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 2, 204500
Set mode of inheritance
Catherine Snow (Genomics England)Mode of inheritance for gene: TPP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: tpp1 has been classified as Green List (High Evidence).
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TPP1.
Added New Source
Ellen McDonagh (Genomics England Curator)TPP1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
Created
Ellen McDonagh (Genomics England Curator)TPP1 was created by ellenmcdonagh