Palmoplantar keratodermas

Gene: KDSR

Green List (high evidence)

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on publications: Additional case reported in PMID:34686882.
Created: 10 Feb 2023, 9:59 a.m. | Last Modified: 10 Feb 2023, 9:59 a.m.
Panel Version: 2.7

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: KDSR; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 28 Jan 2019, 10:47 a.m.


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • London North GLH
  • Expert Review Green
  • Erythrokeratodermia variabilis et progressiva 4
Clinvar variants
Variants in KDSR
Panels with this gene

History Filter Activity

10 Feb 2023, Gel status: 3

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: KDSR were set to

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to KDSR.

28 Jan 2019, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: KDSR was added gene: KDSR was added to Palmoplantar keratodermas. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4