Palmoplantar keratoderma and erythrokeratodermas
Gene: KDSRComment on publications: Additional case reported in PMID:34686882.Created: 10 Feb 2023, 9:57 a.m. | Last Modified: 10 Feb 2023, 9:57 a.m.
Panel Version: 1.28
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:28575652Created: 17 Aug 2017, 11:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Erythrokeratodermia variabilis et progressiva 4, 617526
Publications
Publications for gene: KDSR were set to 28575652; 34686882
Publications for gene: KDSR were set to 28575652
This gene has been classified as Green List (High Evidence).
Mode of inheritance for KDSR was changed to BIALLELIC, autosomal or pseudoautosomal
KDSR was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other
KDSR was created by rfoulger