Neuronal ceroid lipofuscinosis

Gene: PPT1

Green List (high evidence)

PPT1 (palmitoyl-protein thioesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000131238
EnsemblGeneIds (GRCh37): ENSG00000131238
OMIM: 600722, Gene2Phenotype
PPT1 is in 16 panels

1 review

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

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