Ectodermal dysplasia
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)
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)