Ichthyosis and erythrokeratoderma

Gene: SDR9C7

Green List (high evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM, not in G2P. At least 3 variants reported in three unrelated families with Autosomal Recessive Congenital Ichthyosis. Supporting functional studies also included in PMID 28173123
Created: 17 Aug 2017, 4:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, congenital, autosomal recessive 13 617574

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 13 617574
OMIM
609769
Clinvar variants
Variants in SDR9C7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SDR9C7 was added gene: SDR9C7 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SDR9C7 were set to 28173123; 28369735 Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 617574