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

1 review

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4
OMIM
136440
Clinvar variants
Variants in KDSR
Penetrance
None
Panels with this gene

History Filter Activity

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