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Leukodystrophy - paediatric

Gene: PPT1

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

White matter changes have been reported in neuronal ceroid lipofuscinosis, but not reported in association with this gene.
Sources: Expert list
Created: 19 Jan 2020, 4:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 1 256730

Publications

Created: 19 Jan 2020, 4:48 a.m.

Panel version: 0.34

History Filter Activity

19 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ppt1 has been classified as Amber List (Moderate Evidence).

19 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: PPT1 was added gene: PPT1 was added to Leukodystrophy - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPT1 were set to 5706364; 8576553 Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1 256730 Review for gene: PPT1 was set to AMBER