Palmoplantar keratoderma and erythrokeratodermas

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
  • Other
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, 617526
OMIM
136440
Clinvar variants
Variants in KDSR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

17 Aug 2017, Gel status: 0

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for KDSR was changed to BIALLELIC, autosomal or pseudoautosomal

17 Aug 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

KDSR was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other

17 Aug 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

KDSR was created by rfoulger