Genomics England
GMS Panels
Panels
Genes and Entities

KDSR

3-ketodihydrosphingosine reductase
OMIM: 136440
PanelMode of inheritanceDetails
3 panels
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
(NO OMIM NUMBER OR DISEASE), Recessive severe thrombocytopenia with progression to marrow fibrosis at young age
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Erythrokeratodermia variabilis et progressiva 4, OMIM:617526
Green
in Palmoplantar keratodermas
R-numbers: R166
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Erythrokeratodermia variabilis et progressiva 4