Palmoplantar keratoderma and erythrokeratodermas
Gene: SDR9C7

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

1 review

Rebecca Foulger (Genomics England curator)

PMID:28173123 (Shigehara et al., 2016) report 3 consanguineous families with autosomal recessive congenital ichthyosis (ARCI) and homozygous mutations in SDR9C7. Affected individuals in all the three families have had dry skin with large scales on the whole body surface, hyperkeratosis over elbows and knees, palmoplantar keratoderma and recurrent dermatophytic infections of the skin and onychomycosis.
Created: 22 Jun 2017, 2:31 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal Recessive Congenital Ichthyosis (includes palmoplantar keratoderma); ARCI

Publications

Created: 22 Jun 2017, 2:31 p.m.

Panel version: 1.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Literature

Phenotypes

Autosomal Recessive Congenital Ichthyosis (includes palmoplantar keratoderma)
ARCI
Ichthyosis, congenital, autosomal recessive 13 617574

OMIM

609769

Clinvar variants

Variants in SDR9C7

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

17 Aug 2017, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SDR9C7 were set to Autosomal Recessive Congenital Ichthyosis (includes palmoplantar keratoderma); ARCI; Ichthyosis, congenital, autosomal recessive 13 617574

22 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SDR9C7 was created by rfoulger