Ichthyosis and erythrokeratoderma

Gene: KDSR

Green List (high evidence)

KDSR (3-ketodihydrosphingosine reductase)
EnsemblGeneIds (GRCh38): ENSG00000119537
EnsemblGeneIds (GRCh37): ENSG00000119537
OMIM: 136440, Gene2Phenotype
KDSR is in 7 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green: Although not yet curated in DD-G2P, 4 unrelated compound heterozygous cases of erythrokeratoderma phenotype reported in PMID:28575652.
Created: 17 Aug 2017, 11:34 a.m.
Added to panel after new gene/phenotype relationship added in OMIM. New evidence is based on PMID:28575652 (Boyden et al., 2017) who identified compound heterozygosity for variants in the KDSR in 4 unrelated patients with EKVP4 (MIM:617526). In 2 of the patients, the second variant was a 346-kb inversion that replaces the upstream promoter, 5-prime UTR, start codon, and first 2 exons of the KDSR gene with unrelated sequence. 3 of the patients harboured a silent Q293Q variant (c.8796-A) which resulted in exon skipping and loss of exon 9. In each of the 4 cases, the proband's unaffected parents were each heterozygous for one of the variants. The article states that all patients were unrelated, but doesn't give ethnicity/geographical information.
Created: 17 Aug 2017, 11:33 a.m.
Comment on mode of inheritance: Biallelic MOI confirmed by OMIM and PMID:28575652
Created: 17 Aug 2017, 11:28 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Erythrokeratodermia variabilis et progressiva 4, 617526

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, 617526
OMIM
136440
Clinvar variants
Variants in KDSR
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: KDSR was added gene: KDSR was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDSR were set to 28575652 Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4, 617526