Ectodermal dysplasia

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 7 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
None
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: SDR9C7 was added gene: SDR9C7 was added to Ectodermal dysplasia. Sources: Expert Review Amber Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDR9C7 were set to autosomal recessive congenital ichthyosis (ARCI) type 7 (includes scarring alopecia)