Ectodermal dysplasia

Gene: C2

Red List (low evidence)

C2 (complement C2)
EnsemblGeneIds (GRCh38): ENSG00000166278
EnsemblGeneIds (GRCh37): ENSG00000166278
OMIM: 613927, Gene2Phenotype
C2 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked C2 as ready (RED): July 13th 2017.
Created: 13 Jul 2017, 6:53 a.m.
Comment on list classification: Kept rating as Red: No direct evidence for role of C2 in scarring alopecia.
Created: 13 Jul 2017, 6:53 a.m.
Familial discoid lupus erythematosus (DLE) is associated with C2-deficiency (PMID:6902670), and DLE is a cause of scarring (cicatricial) alopecia (e.g. PMID:18715293).
Created: 3 Jul 2017, 3:09 p.m.


  • Expert Review Red
  • discoid (cutaneous) lupus
  • discoid lupus erythematosus
Clinvar variants
Variants in C2
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: C2 was added gene: C2 was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: C2 was set to Publications for gene: C2 were set to 6902670 Phenotypes for gene: C2 were set to discoid (cutaneous) lupus; discoid lupus erythematosus