This Panel is marked as Retired
Epileptic encephalopathy
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
5 reviews
Amy McTague (UCL Institute of Child Health)
Natalie Trump (NHS - Great Ormond Street Hospital)
Manju Kurian (UCL-Institute of Child Health)
Richard Scott (North Thames GMC/UCL)
Ellen McDonagh (Genomics England Curator)
"PPT" was submitted by an expert, which is most likely to be this HGNC-approved symbol.Created: 1 Jul 2015, 3:16 p.m.
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
13 Nov 2015, Gel status: 1
gel status update
GEL ()The Gel status was updated for this whole panel
13 Nov 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PPT1 was added to Epileptic encephalopathypanel. Source: Expert Review Red
13 Nov 2015, Gel status: 0
gel status update
GEL ()The Gel status was updated for this whole panel
1 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PPT1 was added to Epileptic encephalopathypanel. Sources: Expert