Gene Symbol:
JUP
HGNC:6207
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17q21.2
Filters:

Definitive classifications

arrhythmogenic right ventricular cardiomyopathy
AD
07/27/2018
Evaluated
08/16/2021
Submitted

Strong classifications

inherited epidermolysis bullosa
AR
10/15/2020
Evaluated
03/31/2021
Submitted
Naxos disease
Submitted as: OMIM:601214
AR
01/29/2021
Evaluated
03/31/2021
Submitted
familial isolated arrhythmogenic right ventricular dysplasia
Submitted as: OMIM:611528
AD
05/26/2021
Evaluated
02/03/2022
Submitted
Naxos disease
Submitted as: OMIM:601214
AR
10/15/2021
Evaluated
02/03/2022
Submitted

Moderate classifications

Supportive classifications

Naxos disease
Submitted as: Orphanet:34217
AR
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

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