KDSR

3-ketodihydrosphingosine reductase
OMIM: 136440, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green KDSR in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.52

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, MIM# 617526
  • severe thrombocytopaenia

Red KDSR in Epidermolysis bullosa


Level 2: Dermatological disorders
Version 1.22

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4 MIM#617526

Amber KDSR in Ichthyosis


Level 2: Dermatological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Harlequin ichthyosis

Green KDSR in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, MIM# 617526
  • severe thrombocytopaenia

Green KDSR in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, MIM# 617526
  • severe thrombocytopaenia

Green KDSR in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, MIM# 617526
  • severe thrombocytopaenia