Familial cicatricial alopecia

Gene: C2

Red List (low evidence)

C2 (complement C2)
EnsemblGeneIds (GRCh38): ENSG00000166278
EnsemblGeneIds (GRCh37): ENSG00000166278
OMIM: 613927, Gene2Phenotype
C2 is in 7 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.

Details

Sources
  • Expert Review Red
  • Other
Phenotypes
  • discoid lupus erythematosus
  • discoid (cutaneous) lupus
OMIM
613927
Clinvar variants
Variants in C2
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)

C2 was created by rfoulger

22 Nov 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

C2 was added to Familial cicatricial alopeciapanel. Sources: Other