Familial cicatricial alopecia
Gene: C5
C5 (complement C5)
EnsemblGeneIds (GRCh38): ENSG00000106804
EnsemblGeneIds (GRCh37): ENSG00000106804
OMIM: 120900, Gene2Phenotype
C5 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000106804
EnsemblGeneIds (GRCh37): ENSG00000106804
OMIM: 120900, Gene2Phenotype
C5 is in 4 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked C5 as ready (RED): July 13th 2017.Created: 13 Jul 2017, 6:56 a.m.
Comment on list classification: Kept rating as Red: No direct evidence for role of C5 in scarring alopecia.Created: 13 Jul 2017, 6:56 a.m.
Familial discoid lupus erythematosus (DLE) is associated with C5-deficiency (PMID:1999552), and DLE is a cause of scarring (cicatricial) alopecia.Created: 22 Nov 2016, 4:56 p.m.
Details
- Sources
-
- Expert Review Red
- Other
- Phenotypes
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- discoid lupus erythematosus
- OMIM
- 120900
- Clinvar variants
- Variants in C5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
20 Jul 2017, Gel status: 1
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.
13 Jul 2017, Gel status: 1
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
13 Jul 2017, Gel status: 1
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
22 Nov 2016, Gel status: 0
Created
Rebecca Foulger (Genomics England curator)C5 was created by rfoulger
22 Nov 2016, Gel status: 0
Added New Source
Rebecca Foulger (Genomics England curator)C5 was added to Familial cicatricial alopeciapanel. Sources: Other