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

Genomics England PanelApp 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

Invitae classifications

arrhythmogenic right ventricular dysplasia 12
Submitted as: OMIM:611528
AD
04/19/2021
Evaluated
11/30/2023
Submitted
Naxos disease
Submitted as: OMIM:601214
AR
12/23/2020
Evaluated
11/30/2023
Submitted

Orphanet 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

PanelApp Australia classifications

G2P classifications

AR
04/25/2022
Evaluated
09/11/2023
Submitted

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