1. Panels
  2. Newborns main panel
  3. KDSR
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

Gene: KDSR

Amber List (moderate evidence)
KDSR (3-ketodihydrosphingosine reductase)
EnsemblGeneIds (GRCh38): ENSG00000119537
EnsemblGeneIds (GRCh37): ENSG00000119537
OMIM: 136440, Gene2Phenotype
KDSR is in 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://search.clinicalgenome.org/kb/genes/HGNC:4021 PMID: 28575652 - 4 cases PMID: 35958175 - 1 case PMID: 28774589 - 4 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

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

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to KDSR. Added phenotypes Erythrokeratodermia variabilis et progressiva 4 for gene: KDSR Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to KDSR. Added phenotypes Erythrokeratodermia variabilis et progressiva 4 for gene: KDSR Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to KDSR. Added phenotypes Erythrokeratodermia variabilis et progressiva 4 for gene: KDSR Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: KDSR was added gene: KDSR was added to Newborns main panel. Sources: Expert Review Removed 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