Gene Symbol:
DSP
HGNC:3052
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
6p24.3
Filters:

Definitive classifications

arrhythmogenic cardiomyopathy with woolly hair and keratoderma
AD
07/12/2019
Evaluated
08/16/2021
Submitted

Strong classifications

keratosis palmoplantaris striata 2
Submitted as: OMIM:612908
AD
01/29/2021
Evaluated
03/31/2021
Submitted
cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis
Submitted as: OMIM:615821
AD
01/29/2021
Evaluated
03/31/2021
Submitted
lethal acantholytic epidermolysis bullosa
Submitted as: OMIM:609638
AR
01/29/2021
Evaluated
03/31/2021
Submitted
skin fragility-woolly hair-palmoplantar keratoderma syndrome
Submitted as: OMIM:607655
AR
01/29/2021
Evaluated
03/31/2021
Submitted
arrhythmogenic cardiomyopathy with woolly hair and keratoderma
Submitted as: OMIM:605676
AR
01/29/2021
Evaluated
03/31/2021
Submitted
lethal acantholytic epidermolysis bullosa
Submitted as: OMIM:609638
AR
02/13/2021
Evaluated
03/09/2021
Submitted
dilated cardiomyopathy
AD
08/12/2020
Evaluated
08/16/2021
Submitted

Moderate classifications

lethal acantholytic epidermolysis bullosa
Submitted as: OMIM:609638
AR
09/04/2020
Evaluated
12/24/2020
Submitted

Supportive classifications

familial isolated dilated cardiomyopathy
Submitted as: Orphanet:154
AD
09/14/2021
Evaluated
09/14/2021
Submitted
striate palmoplantar keratoderma
Submitted as: Orphanet:50942
AD
09/14/2021
Evaluated
09/14/2021
Submitted
arrhythmogenic cardiomyopathy with woolly hair and keratoderma
Submitted as: Orphanet:65282
AD
09/14/2021
Evaluated
09/14/2021
Submitted
lethal acantholytic epidermolysis bullosa
Submitted as: Orphanet:158687
AR
09/14/2021
Evaluated
09/14/2021
Submitted
skin fragility-woolly hair-palmoplantar keratoderma syndrome
Submitted as: Orphanet:293165
AD
09/14/2021
Evaluated
09/14/2021
Submitted
severe dermatitis-multiple allergies-metabolic wasting syndrome
Submitted as: Orphanet:369992
AR
09/14/2021
Evaluated
09/14/2021
Submitted

No Known Disease Relationship classifications

hypertrophic cardiomyopathy
AD
04/07/2020
Evaluated
08/16/2021
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.