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Gene: PPT1

Green List (high evidence)

PPT1 (palmitoyl-protein thioesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000131238
EnsemblGeneIds (GRCh37): ENSG00000131238
OMIM: 600722, Gene2Phenotype
PPT1 is in 14 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

NCL is a lysosomal storage disorder that is often characterized by intracellular accumulation of auto fluorescent lipopigments and progressive neurodegeneration beginning in childhood, and can involve a variety of phenotypes including: seizures, cognitive decline, vision deterioration, blindness, and brain atrophy.

HGNC approved symbol/name: PPT1
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes
Created: 3 Mar 2025, 5:38 a.m. | Last Modified: 3 Mar 2025, 5:38 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 1, MIM# 256730

Publications

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Ceroid lipofuscinosis, neuronal, 1, 256730 (3) for gene: PPT1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PPT1 was added gene: PPT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, 256730 (3)