Palmoplantar Keratoderma and Erythrokeratoderma
Gene: SLURP1

SLURP1 (secreted LY6/PLAUR domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000126233
EnsemblGeneIds (GRCh37): ENSG00000126233
OMIM: 606119, Gene2Phenotype
SLURP1 is in 2 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Note single report of mildly manifesting carriers.
Created: 17 Aug 2020, 3:04 a.m. | Last Modified: 17 Aug 2020, 3:04 a.m.

Panel Version: 0.48

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Meleda disease, MIM#248300

Publications

14756676

Created: 17 Aug 2020, 3:04 a.m.
Last Modified: 17 Aug 2020, 3:04 a.m.
Panel version: 0.48

Paul De Fazio (Victorian Clinical Genetics Services)

Green List (high evidence)

Association with Meleda disease is well supported (>10 families). Via OMIM: "Mal de Meleda is a rare autosomal recessive skin disorder characterized by transgressive palmoplantar keratoderma, keratotic skin lesions, perioral erythema, brachydactyly, and nail abnormalities."
Created: 16 Aug 2020, 11:45 p.m. | Last Modified: 16 Aug 2020, 11:46 p.m.

Panel Version: 0.45

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meleda disease (MIM#248300)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Aug 2020, 11:45 p.m.
Last Modified: 16 Aug 2020, 11:46 p.m.
Panel version: 0.45

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Meleda disease (MIM#248300)

OMIM

606119

Clinvar variants

Variants in SLURP1

Penetrance

None

Publications

Panels with this gene