Early onset or syndromic epilepsy
Gene: PET100
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
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.
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
Source Wessex and West Midlands GLH was added to PET100.
Source NHS GMS was added to PET100.
Zornitza Stark: Seizures are part of the pheno
Gene: pet100 has been classified as Green List (High Evidence).
Gene: pet100 has been classified as Green List (High Evidence).
Tag founder-effect tag was added to gene: PET100.
Publications for gene: PET100 were set to 24462369
Mode of inheritance for gene: PET100 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency, 220110; seizures
Publications for gene: PET100 were set to
Expert Review Amber was added to PET100. Panel: Genetic Epilepsy Syndromes
PET100 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
PET100 was created by Sarah Leigh