Retinal disorders
Gene: PPT1
PPT1 (palmitoyl-protein thioesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000131238
EnsemblGeneIds (GRCh37): ENSG00000131238
OMIM: 600722, Gene2Phenotype
PPT1 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000131238
EnsemblGeneIds (GRCh37): ENSG00000131238
OMIM: 600722, Gene2Phenotype
PPT1 is in 15 panels
2 reviews
Catherine Snow (Genomics England)
PPT1 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, 4:15 p.m. | Last Modified: 7 Oct 2019, 4:15 p.m.
Panel Version: 1.181
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 1, 256730
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
CLN1Created: 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, 1, 256730
- OMIM
- 600722
- Clinvar variants
- Variants in PPT1
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Neuronal ceroid lipofuscinosis
- Inherited white matter disorders
- Hyperammonaemia
- Retinal disorders
- Likely inborn error of metabolism
- Structural eye disease
- Early onset or syndromic epilepsy
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- White matter disorders and cerebral calcification - narrow panel
- Lysosomal storage disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
7 Oct 2019, Gel status: 3
Set Phenotypes
Catherine Snow (Genomics England)Phenotypes for gene: PPT1 were changed from Eye Disorders to Eye Disorders; Ceroid lipofuscinosis, neuronal, 1, 256730
7 Oct 2019, Gel status: 3
Set mode of inheritance
Catherine Snow (Genomics England)Mode of inheritance for gene: PPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
7 Oct 2019, Gel status: 3
Entity classified by Genomics England curator
Catherine Snow (Genomics England)Gene: ppt1 has been classified as Green List (High Evidence).
3 Apr 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PPT1.
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PPT1 was created by ellenmcdonagh
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PPT1 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red