Mitochondrial disorder with complex IV deficiency

Gene: PET117

Amber List (moderate evidence)

PET117 (PET117 homolog)
EnsemblGeneIds (GRCh38): ENSG00000232838
EnsemblGeneIds (GRCh37): ENSG00000232838
OMIM: 614771, Gene2Phenotype
PET117 is in 4 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber on this panel due to the evidence level; only a single family report has been published.
Created: 25 Feb 2019, 5:08 p.m.

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group. Gene Symbol submitted: PET117; Suggested intial gene rating: Green; Information provided: Mode of inheritance and publication.
Created: 1 Feb 2019, 4:34 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
No OMIM phenotype

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • No OMIM phenotype
OMIM
614771
Clinvar variants
Variants in PET117
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: pet117 has been classified as Amber List (Moderate Evidence).

25 Feb 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: pet117 has been classified as Amber List (Moderate Evidence).

1 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: PET117 was added gene: PET117 was added to Mitochondrial disorder with complex IV deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PET117 were set to 28386624 Phenotypes for gene: PET117 were set to No OMIM phenotype