Mitochondrial disorders
Gene: PET100EnsemblGeneIds (GRCh38): ENSG00000229833
EnsemblGeneIds (GRCh37): ENSG00000229833
OMIM: 614770, Gene2Phenotype
PET100 is in 12 panels
4 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: Confirmed on G2P and OMIM.Created: 12 Feb 2016, 11:35 a.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green, and is a probable DD gene.Created: 12 Feb 2016, 11:34 a.m.
Shamima Rahman (UCL Institute of Child Health)
founder mutation in Lebanese individualsCreated: 4 Feb 2016, 9:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Katherine Smith (Genomics England)
rs587777839 has been observed in eight familes with mitochdondrial disorders, all of the same ancestry (PMID 24462369). The authors did functional studies to show overexpression of wild-type PET100 restored COX2 levels. A nonsense mutation is reported in ClinVar (rs587779779) but appears unpublished.Created: 1 Jul 2015, 10:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial Complex IV deficiency; Leigh syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Isolated complex IV deficiency
- Mitochondrial complex IV deficiency, 220110
- Leigh syndrome
- OMIM
- 614770
- Clinvar variants
- Variants in PET100
- Penetrance
- Complete
- Publications
-
- PMID: 24462369
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Possible mitochondrial disorder - nuclear genes
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Monogenic hearing loss
- Intellectual disability
- Mitochondrial disorder with complex IV deficiency
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to PET100. Panel: Mitochondrial disorders
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PET100 were set to Isolated complex IV deficiency; Mitochondrial complex IV deficiency, 220110; Leigh syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PET100 were set to PMID: 24462369
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PET100 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)PET100 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)PET100 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)PET100 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen