Ectodermal dysplasia
Gene: PPARG
PPARG (peroxisome proliferator activated receptor gamma)
EnsemblGeneIds (GRCh38): ENSG00000132170
EnsemblGeneIds (GRCh37): ENSG00000132170
OMIM: 601487, Gene2Phenotype
PPARG is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000132170
EnsemblGeneIds (GRCh37): ENSG00000132170
OMIM: 601487, Gene2Phenotype
PPARG is in 9 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on list classification: Kept rating as Red: insufficient direct evidence to link PPARG to cicatricial (scarring) alopecia.Created: 13 Jul 2017, 2:50 p.m.
PMID:19052558 (Karnik et al., 2009, reviewed by PMID:19369934) report that targeted deletion of PPAR-gamma in follicular stem cells in mice, causes a skin and hair phenotype that emulates cicatricial (scarring) alopecia.Created: 13 Jul 2017, 2:49 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- lichen planopilaris
- LPP
- PCA
- primary cicatricial alopecia
- scarring alopecia
- OMIM
- 601487
- Clinvar variants
- Variants in PPARG
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
3 Jan 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PPARG was added gene: PPARG was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: PPARG was set to Unknown Publications for gene: PPARG were set to 19369934; 19052558 Phenotypes for gene: PPARG were set to lichen planopilaris; LPP; PCA; primary cicatricial alopecia; scarring alopecia