Familial cicatricial alopecia
Gene: SDR9C7New association on OMIM to Ichthyosis, congenital, autosomal recessive 13 (MIM 617574)Created: 17 Aug 2017, 3:41 p.m.
Publications
Comment when marking as ready: Marked SDR9C7 as ready: July 3rd 2017.Created: 3 Jul 2017, 2:19 p.m.
Comment on phenotypes: At time of curation, not yet linked to Ichthyosis, congenital, autosomal recessive 7, 615022 on OMIM.Created: 22 Jun 2017, 3:04 p.m.
Comment on list classification: Updated rating from Grey to Amber. Gene added to panel on recommendation from Prof. John McGrath who rated SDR9C7 as Amber, as currently insufficient evidence to support causation.Created: 22 Jun 2017, 3:03 p.m.
This gene has recently been implicated in a type of autosomal recessive congenital ichthyosis (ARCI) type 7 with a Pakistani family noted to have scarring alopecia. Amber because of the single family reports and they are only component features of other syndromes.Created: 22 Jun 2017, 2:59 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia)
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.
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for SDR9C7 were set to autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia)
This gene has been classified as Amber List (Moderate Evidence).
SDR9C7 was added to Familial cicatricial alopeciapanel. Sources: Other
SDR9C7 was created by John McGrath