Neuronal ceroid lipofuscinosis
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
1 review
Emma Ashton (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Phenotypes
-
- Ceroid lipofuscinosis, neuronal, 1 OMIM:256730
- neuronal ceroid lipofuscinosis 1 MONDO:0009744
- OMIM
- 600722
- Clinvar variants
- Variants in PPT1
- Penetrance
- None
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Early onset or syndromic epilepsy
- DDG2P
- Neuronal ceroid lipofuscinosis
- Intellectual disability
- Inherited white matter disorders
- Hyperammonaemia
- Retinal disorders
- Likely inborn error of metabolism
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Lysosomal storage disorder
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
17 Mar 2021, Gel status: 3
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1 OMIM:256730; neuronal ceroid lipofuscinosis 1 MONDO:0009744
13 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: PPT1 was added gene: PPT1 was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal