White matter disorders and cerebral calcification - narrow panel
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 1, MIM#256730
- OMIM
- 600722
- Clinvar variants
- Variants in PPT1
- Penetrance
- None
- Panels with this gene
-
- Intellectual disability
- Likely inborn error of metabolism
- Neuronal ceroid lipofuscinosis
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hyperammonaemia
- DDG2P
- Structural eye disease
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- White matter disorders and cerebral calcification - narrow panel
- Glaucoma (developmental)
- Lysosomal storage disorder
- Early onset or syndromic epilepsy
History Filter Activity
8 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PPT1 was added gene: PPT1 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, MIM#256730