Gene Symbol:
TJP2
HGNC:11828
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
9q21.11
Filters:

Strong classifications

cholestasis, progressive familial intrahepatic, 4
Submitted as: OMIM:615878
AR
10/28/2019
Evaluated
09/28/2021
Submitted

Supportive classifications

familial hypercholanemia
Submitted as: Orphanet:238475
AR
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant nonsyndromic hearing loss
Submitted as: Orphanet:90635
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

nonsyndromic genetic hearing loss
AD
12/19/2017
Evaluated
08/16/2021
Submitted
autosomal dominant nonsyndromic hearing loss
AD
10/28/2019
Evaluated
09/28/2021
Submitted

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