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Genetic epilepsy syndromes

Gene: PPT1

Green List (high evidence)

PPT1 (palmitoyl-protein thioesterase 1)
EnsemblGeneIds (GRCh38): ENSG00000131238
EnsemblGeneIds (GRCh37): ENSG00000131238
OMIM: 600722, Gene2Phenotype
PPT1 is in 15 panels

9 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR neuronal ceroid lipofuscinosis 1 (CLN1). Classic infantile onset, seizures have been reported along with other features of this metabolic disease. Vesa et al, 1995 - hom mutation R122W in patients dfrom 40/42 Finnsh CLN1 families - founder effect. Mitchison et al, 1998 - hom or compound het in 11 patients with CLN1. Das et al, 1998, 19 diff mutations in 57 of 58 mutated alleles from 29 patient derived cell lines. R151* 40% of alleles and T75P 13% of alleles. Functional work done on some variants.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis neuronal, 256730

Publications

Eleanor Williams (Genomics England Curator)

Comment when marking as ready: Sufficient cases
Created: 4 Dec 2018, 10:34 p.m.
Comment on list classification: Numerous variants and cases presenting with seizures.
Created: 4 Dec 2018, 10:30 p.m.
Associated with Ceroid lipofuscinosis, neuronal, 1 in OMIM and Gene2Phenotype.

PMID: 7637805 (Vesa et al. 1995) - identified a homozygous mutation (R122W) in the PPT1 gene in patients with infantile-onset CLN1 from 40 of 42 Finnish families. The findings were consistent with a founder effect. The parents were carriers. Clinical phenotypes of patients are not given.

PMID: 9425237 (Mitchison et al. 1998) - homozygosity or compound heterozygosity for mutations in the PPT1 gene in 10 families with juvenile-onset CLN1. 5 mutations observed and in all cases followed a Mendelian pattern of inheritance. Epilepsy was observed in patients from 7 families, with onset from the age of 7.

PMID: 9664077 (Das et al. 1998) reports 19 different mutations in the PPT1 gene 29 patient-derived cell lines. 8 patients presented with seizures.
Created: 4 Dec 2018, 10:30 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this metabolic disorder.
Created: 19 Aug 2018, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 1, MIM#256730

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

Amy McTague (UCL Institute of Child Health)

Red List (low evidence)

Natalie Trump (NHS - Great Ormond Street Hospital)

Red List (low evidence)

Manju Kurian (UCL-Institute of Child Health)

Red List (low evidence)

Richard Scott (North Thames GMC/UCL)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

"PPT" was submitted by an expert, which is most likely to be this HGNC-approved symbol.
Created: 1 Jul 2015, 3:16 p.m.

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to PPT1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PPT1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Ellen McDonagh: "PPT" was submitted by an expe

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ppt1 has been classified as Green List (High Evidence).

4 Dec 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: PPT1 were changed from to Ceroid lipofuscinosis, neuronal, 1 256730

4 Dec 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: PPT1 were set to

4 Dec 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: PPT1 was changed from to BIALLELIC, autosomal or pseudoautosomal

4 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ppt1 has been classified as Green List (High Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to PPT1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PPT1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PPT1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert,Expert Review Red

4 Apr 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PPT1 was created by Sarah Leigh