Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: PET117

Red List (low evidence)

PET117 (PET117 homolog)
EnsemblGeneIds (GRCh38): ENSG00000232838
EnsemblGeneIds (GRCh37): ENSG00000232838
OMIM: 614771, Gene2Phenotype
PET117 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two siblings reported, some functional data. PET117 postulated to be a Complex IV assembly factor.
Sources: Expert list
Created: 13 Apr 2020, 7:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063; Developmental delay; Regression; Complex IV deficiency

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063
  • Developmental delay
  • Regression
  • Complex IV deficiency
OMIM
614771
Clinvar variants
Variants in PET117
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PET117 were changed from Developmental delay; Regression; Complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063; Developmental delay; Regression; Complex IV deficiency

13 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pet117 has been classified as Red List (Low Evidence).

13 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PET117 was added gene: PET117 was added to Mendeliome. Sources: Expert list 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 Developmental delay; Regression; Complex IV deficiency Review for gene: PET117 was set to RED