Familial cicatricial alopecia
Gene: PPARGEnsemblGeneIds (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
- Literature
- Phenotypes
-
- scarring alopecia
- primary cicatricial alopecia
- PCA
- lichen planopilaris
- LPP
- OMIM
- 601487
- Clinvar variants
- Variants in PPARG
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)20 July 2017: Reviews from Prof. John McGrath were assessed, and panel was revised largely to reflect his expert review. Demoted FOXN1 and GJA1 to grey because the congenital alopecia phenotype is too broad for this cicatricial (scarring) alopecia panel. For most of the red genes, there is only very minor (often indirect) evidence to support a link to cicatricial alopecia, but they remain on the panel, for now, for completeness.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for PPARG were set to 19369934; 19052558
Created
Rebecca Foulger (Genomics England curator)PPARG was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)PPARG was added to Familial cicatricial alopeciapanel. Sources: Literature