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  2. Ectodermal dysplasia
  3. C5
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Ectodermal dysplasia

Gene: C5

Red List (low evidence)
C5 (complement C5)
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.
Created: 22 Nov 2016, 4:56 p.m.

Panel version: Imported from Familial cicatricial alopecia panel version 0.2

Details

Sources
  • Expert Review Red
Phenotypes
  • discoid lupus erythematosus
OMIM
120900
Clinvar variants
Variants in C5
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: C5 was added gene: C5 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: C5 was set to Publications for gene: C5 were set to 1999552 Phenotypes for gene: C5 were set to discoid lupus erythematosus