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

Ambry Genetics classifications

lethal acantholytic epidermolysis bullosa
Submitted as: OMIM:609638
AR
09/04/2020
Evaluated
12/24/2020
Submitted
skin fragility-woolly hair-palmoplantar keratoderma syndrome
Submitted as: OMIM:607655
AR
12/22/2021
Evaluated
08/19/2023
Submitted
keratosis palmoplantaris striata 2
Submitted as: OMIM:612908
AD
12/22/2021
Evaluated
08/19/2023
Submitted
arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Submitted as: OMIM:605676
AR
12/22/2021
Evaluated
08/19/2023
Submitted
cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Submitted as: OMIM:615821
AD
12/22/2021
Evaluated
08/19/2023
Submitted

ClinGen classifications

hypertrophic cardiomyopathy
AD
06/22/2022
Evaluated
04/21/2024
Submitted
arrhythmogenic cardiomyopathy with wooly hair and keratoderma
AD
07/12/2019
Evaluated
04/21/2024
Submitted

Genomics England PanelApp classifications

keratosis palmoplantaris striata 2
Submitted as: OMIM:612908
AD
01/29/2021
Evaluated
03/31/2021
Submitted
cardiomyopathy, dilated, with wooly 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 wooly hair and keratoderma
Submitted as: OMIM:605676
AR
01/29/2021
Evaluated
03/31/2021
Submitted

Invitae classifications

arrhythmogenic right ventricular dysplasia 8
Submitted as: OMIM:607450
AD
10/30/2023
Evaluated
11/30/2023
Submitted
arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Submitted as: OMIM:605676
AR
05/05/2023
Evaluated
11/30/2023
Submitted
cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Submitted as: OMIM:615821
AD
11/18/2019
Evaluated
11/30/2023
Submitted
lethal acantholytic epidermolysis bullosa
Submitted as: OMIM:609638
AR
12/15/2018
Evaluated
11/30/2023
Submitted

Orphanet 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 wooly 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

PanelApp Australia classifications

lethal acantholytic epidermolysis bullosa
Submitted as: OMIM:609638
AR
02/13/2021
Evaluated
03/09/2021
Submitted

G2P classifications

arrhythmogenic right ventricular dysplasia 8
AD
04/25/2022
Evaluated
09/11/2023
Submitted
arrhythmogenic right ventricular dysplasia 8
AR
04/25/2022
Evaluated
09/11/2023
Submitted

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