This Panel is marked as Retired
Epilepsy Plus
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
0 reviews
Details
- Sources
-
- Expert Review Red
- Expert
- OMIM
- 600722
- Clinvar variants
- Variants in PPT1
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Neuronal ceroid lipofuscinosis
- Undiagnosed metabolic disorders
- Structural eye disease
- Inherited white matter disorders
- Hyperammonaemia
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
- Lysosomal storage disorder
History Filter Activity
8 Sep 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PPT1 was added to Epilepsy Pluspanel. Sources: Expert,Expert Review Red
8 Sep 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PPT1 was created by ellenmcdonagh