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Inborn errors of metabolism

Gene: PET100

Green List (high evidence)

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

4 reviews

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

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)

Green List (high evidence)

founder mutation in Lebanese individuals
Created: 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 A nonsense mutation is reported in ClinVar (rs587779779) but appears unpublished.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

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Leigh syndrome; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency for gene: PET100 Publications for gene PET100 were changed from PMID: 24462369 to 24462369

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PET100 was added gene: PET100 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PET100 were set to PMID: 24462369 Phenotypes for gene: PET100 were set to Leigh syndrome; Mitochondrial complex IV deficiency, 220110; Isolated complex IV deficiency