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Genetic epilepsy syndromes

Gene: PET100

Green List (high evidence)

PET100 (PET100 homolog)
EnsemblGeneIds (GRCh38): ENSG00000229833
EnsemblGeneIds (GRCh37): ENSG00000229833
OMIM: 614770, Gene2Phenotype
PET100 is in 12 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Mi/AR mitochondrial complex IV deficiency - Associatred with Leigh syndrome - may be more appropriate on mitochondrial panel.
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
Mitochondrial complex IV deficiency,220110

Publications

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
Comment on list classification: Updated rating from Amber to Green: Green review, and Green rating agreed by Sarah Leigh. Seizures are a recognised phenotype of patients with Mitochondrial complex IV deficiency, which can be caused by variants in multiple genes, including PET100. 2 different PET100 variants reported so far in the literature (including a founder variant in Lebanese patients) in >3 unrelated individuals with seizures as a prominent phenotype (PMIDs24462369 and 23829769).
Created: 12 Nov 2018, 5:01 p.m.
Added 'founder effect' tag based on PMID:24462369 who identified a founder variant in patients of Lebanese descent.
Created: 12 Nov 2018, 4:52 p.m.
PMID:23829769 report a female patient born to British Pakistani parents with seizures beginning at 48 hours old. She died age 55 hours. She had a pathogenic homozygous nonsense variant in the PET100 gene (c.142C>T, p.Gln48*).
Created: 12 Nov 2018, 4:23 p.m.
PMID:24462369 (Lim et al) studied ten individuals with IV-deficient Leigh Syndrome. All ten affected individuals were of Lebanese descent, and were homozygous for a founder c.3G>C variant predicted to abolish the first methionine residue. Seizures were a prominent feature, and reported in 8 individuals from 6 families not known to be related.
Created: 12 Nov 2018, 4:15 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this mitochondrial disorder.
Created: 18 Aug 2018, 10:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, MIM#220110

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
  • seizures
Tags
founder-effect
OMIM
614770
Clinvar variants
Variants in PET100
Penetrance
None
Publications
Panels with this gene

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 PET100.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to PET100.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

12 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pet100 has been classified as Green List (High Evidence).

12 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: pet100 has been classified as Green List (High Evidence).

12 Nov 2018, Gel status: 2

Added Tag

Rebecca Foulger (Genomics England curator)

Tag founder-effect tag was added to gene: PET100.

12 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: PET100 were set to 24462369

12 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: PET100 was changed from to BIALLELIC, autosomal or pseudoautosomal

12 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency, 220110; seizures

12 Nov 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: PET100 were set to

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to PET100. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

PET100 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

PET100 was created by Sarah Leigh