KDSR

3-ketodihydrosphingosine reductase
OMIM: 136440, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green KDSR in Palmoplantar keratoderma and erythrokeratodermas

Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, 617526

Green KDSR in Ichthyosis and erythrokeratoderma


Version 1.68
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, OMIM:617526

Green KDSR in Palmoplantar keratodermas


Version 1.9
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4

Green KDSR in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.164

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Platelet disorder
  • Severe Thrombocytopenia with progression to marrow fibrosis at young age

Green KDSR in Bleeding and platelet disorders


Version 1.31
Latest signed off version: v1.2 (3 Mar 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • (NO OMIM NUMBER OR DISEASE)
  • Recessive severe thrombocytopenia with progression to marrow fibrosis at young age

Red KDSR in Cytopenia - NOT Fanconi anaemia


Version 1.43
Latest signed off version: v1.29 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert review Red
  • NHS GMS
  • North West GLH
  • London South GLH
  • Yorkshire and North East GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, 617526

Green KDSR in Severe Paediatric Disorders


Version 1.84

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Erythrokeratodermia variabilis et progressiva 4, 617526