Palmoplantar Keratoderma and Erythrokeratoderma
Gene: KDSR

KDSR (3-ketodihydrosphingosine reductase)
EnsemblGeneIds (GRCh38): ENSG00000119537
EnsemblGeneIds (GRCh37): ENSG00000119537
OMIM: 136440, Gene2Phenotype
KDSR is in 6 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England)

Green List (high evidence)

Additional case reported in PMID:34686882.
Created: 10 Feb 2023, 10:16 a.m. | Last Modified: 10 Feb 2023, 10:16 a.m.

Panel Version: 0.127

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

34686882

Created: 10 Feb 2023, 10:16 a.m.
Last Modified: 10 Feb 2023, 10:16 a.m.
Panel version: 0.127

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple unrelated individuals reported, findings can be limited to skin, or include significant thrombocytopaenia.
Created: 15 Aug 2020, 3:48 a.m. | Last Modified: 15 Aug 2020, 3:48 a.m.

Panel Version: 0.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia

Publications

Created: 15 Aug 2020, 3:48 a.m.
Last Modified: 15 Aug 2020, 3:48 a.m.
Panel version: 0.42

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Erythrokeratodermia variabilis et progressiva 4, MIM# 617526
severe thrombocytopaenia

OMIM

136440

Clinvar variants

Variants in KDSR

Penetrance

None

Publications

Panels with this gene