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  3. KDSR
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Ichthyosis

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

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two unrelated cases with harlequin ichthyosis and thrombocytopenia. These are the only reports associated with ichthyosis, more cases have been reported with palmoplantar keratoderma and erythrokeratoderma.
Sources: Expert list
Created: 31 Jan 2020, 5:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Harlequin ichthyosis

Publications

Created: 31 Jan 2020, 5:03 a.m.

Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Harlequin ichthyosis
OMIM
136440
Clinvar variants
Variants in KDSR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdsr has been classified as Amber List (Moderate Evidence).

31 Jan 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kdsr has been classified as Amber List (Moderate Evidence).

31 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: KDSR was added gene: KDSR was added to Ichthyosis. Sources: Expert list Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDSR were set to 28774589 Phenotypes for gene: KDSR were set to Harlequin ichthyosis Review for gene: KDSR was set to AMBER