Fatty Acid Oxidation Defects
Gene: PPARGEnsemblGeneIds (GRCh38): ENSG00000132170
EnsemblGeneIds (GRCh37): ENSG00000132170
OMIM: 601487, Gene2Phenotype
PPARG is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Not a fatty acid oxidation defect. Peroxisome proliferator-activated receptors (PPARs), such as PPARG bind chemicals that induce proliferation of peroxisomes, organelles that contribute to the oxidation of fatty acids so the link is indirect.Created: 29 Jul 2020, 11:45 a.m. | Last Modified: 29 Jul 2020, 11:45 a.m.
Panel Version: 0.27
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- OMIM
- 601487
- Clinvar variants
- Variants in PPARG
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pparg has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pparg has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PPARG was added gene: PPARG was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PPARG was set to Unknown