Mitochondrial disease
Gene: PET117EnsemblGeneIds (GRCh38): ENSG00000232838
EnsemblGeneIds (GRCh37): ENSG00000232838
OMIM: 614771, Gene2Phenotype
PET117 is in 2 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063
Bryony Thompson (Royal Melbourne Hospital)
Two siblings with deficiency of complex IV of the respiratory chain and a homozygous variant. Only functional assays conducted were complementation assays in patient fibroblasts.
Sources: NHS GMSCreated: 22 Mar 2020, 4:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental delay
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063
- Developmental delay
- OMIM
- 614771
- Clinvar variants
- Variants in PET117
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PET117 were changed from Developmental delay to Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063; Developmental delay
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pet117 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PET117 was added gene: PET117 was added to Mitochondrial disease. Sources: 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 Developmental delay Review for gene: PET117 was set to RED