KDSR

3-ketodihydrosphingosine reductase
OMIM: 136440, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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