Familial cicatricial alopecia

Gene: SDR9C7

Amber List (moderate evidence)

SDR9C7 (short chain dehydrogenase/reductase family 9C member 7)
EnsemblGeneIds (GRCh38): ENSG00000170426
EnsemblGeneIds (GRCh37): ENSG00000170426
OMIM: 609769, Gene2Phenotype
SDR9C7 is in 6 panels

3 reviews

Sarah Leigh (Genomics England Curator)

New association on OMIM to Ichthyosis, congenital, autosomal recessive 13 (MIM 617574)
Created: 17 Aug 2017, 3:41 p.m.

Publications

Rebecca Foulger (Genomics England curator)

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.

John McGrath (KCL)

I don't know

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)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia)
OMIM
609769
Clinvar variants
Variants in SDR9C7
Penetrance
Complete
Panels with this gene

History Filter Activity

20 Jul 2017, Gel status: 2

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.

3 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

22 Jun 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SDR9C7 were set to autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia)

22 Jun 2017, Gel status: 2

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Amber List (Moderate Evidence).

22 Jun 2017, Gel status: 0

Added New Source

John McGrath (KCL)

SDR9C7 was added to Familial cicatricial alopeciapanel. Sources: Other

22 Jun 2017, Gel status: 0

Created

John McGrath (KCL)

SDR9C7 was created by John McGrath